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Article ; Online: Identification of a novel phenotype of external ear deformity related to Coffin-Siris syndrome-9 and literature review.

Wu, Ruohao / Tang, Wenting / Li, Pinggan / Meng, Zhe / Li, Xiaojuan / Liang, Liyang

American journal of medical genetics. Part A

2024 , Page(s) e63626

Abstract: De novo germline variants of the SRY-related HMG-box 11 gene (SOX11) have been reported to cause Coffin-Siris syndrome-9 (CSS-9), a rare congenital disorder associated with multiple organ malformations, including ear anomalies. Previous clinical and ... ...

Abstract	De novo germline variants of the SRY-related HMG-box 11 gene (SOX11) have been reported to cause Coffin-Siris syndrome-9 (CSS-9), a rare congenital disorder associated with multiple organ malformations, including ear anomalies. Previous clinical and animal studies have found that intragenic pathogenic variant or haploinsufficiency in the SOX11 gene could cause inner ear malformation, but no studies to date have documented the external ear malformation caused by SOX11 deficiency. Here, we reported a Chinese male with unilateral microtia and bilateral sensorineural deafness who showed CSS-like manifestations, including dysmorphic facial features, impaired neurodevelopment, and fingers/toes malformations. Using trio-based whole-exome sequencing, a de novo missense variant in SOX11 (NM_003108.4: c.347A>G, p.Y116C) was identified and classified as pathogenic variant as per American College of Medical Genetics guidelines. Moreover, a systematic search of the literature yielded 12 publications that provided data of 55 SOX11 intragenic variants affecting various protein-coding regions of SOX11 protein. By quantitatively analyzing phenotypic spectrum information related to these 56 SOX11 variants (including our case), we found variants affecting different regions of SOX11 protein (high-mobility group [HMG] domain and non-HMG regions) appear to influence the phenotypic spectrum of organ malformations in CSS-9; variants altering the HMG domain were more likely to cause the widest range of organ anomalies. In summary, this is the first report of CSS with external ear malformation caused by pathogenic variant in SOX11, indicating that the SOX11 gene may be not only essential for the development of the inner ear but also critical for the morphogenesis of the external ear. In addition, thorough clinical examination is recommended for patients who carry pathogenic SOX11 variants that affect the HMG domain, as these variants may cause the widest range of organ anomalies underlying this condition.
Language	English
Publishing date	2024-04-09
Publishing country	United States
Document type	Case Reports
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.63626
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Article: [Analysis of SSR4 gene variant in a child with congenital glycosylation type 1y in conjunct with congenital dysplasia of external auditory canal].

Wu, Ruohao / Tang, Wenting / Qiu, Kunyin / Li, Xiaojuan / He, Zhanwen

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

2022 Volume 39, Issue 7, Page(s) 727–730

Abstract: Objective: To explore the genetic basis for a child with congenital disorder of glycosylation type 1y (CDG-1y) in conjunct with congenital dysplasia of external auditory canal.: Methods: Trio-whole exome sequencing (trio-WES) was carried out for the ... ...

Abstract	Objective: To explore the genetic basis for a child with congenital disorder of glycosylation type 1y (CDG-1y) in conjunct with congenital dysplasia of external auditory canal. Methods: Trio-whole exome sequencing (trio-WES) was carried out for the family. Candidate variant was verified by Sanger sequencing. Pathogenicity of the variant was predicted with a variety of bioinformatic tools. Results: The proband, a 10-years-old boy, presented with mental retardation, microcephaly and dysplasia of external auditory canal. Trio-WES revealed that he has harbored a de novo frameshift variant c.302dupC (p.Y102Lfs2) in exon 4 of SSR4 gene, which was unreported previously (PS2). The variant was absent in major allele frequency databases (PM2) and was predicted to be pathogenic by multiple bioinformatic tools (PP3). UCSF chimera software suggested that the c.302dupC (p.Y102Lfs2) variant can induce significant alteration to the structure of SSR4 protein, resulting loss of function (PVS1+PM1). Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was classified as pathogenic (PVS1+PS2+PM1+PM2+PP3). Conclusion: The de novo frameshift variant c.302dupC (p.Y102Lfs*2) of the SSR4 gene probably underlay the child's condition. Above finding has enriched the spectrum of SSR4 mutations and the phenotypic spectrum of CDG-1y.
MeSH term(s)	Child ; Congenital Disorders of Glycosylation/genetics ; Ear Canal/pathology ; Genetic Diseases, X-Linked ; Glycosylation ; Humans ; Male ; Mutation ; Whole Exome Sequencing
Language	Chinese
Publishing date	2022-07-10
Publishing country	China
Document type	Journal Article
ISSN	1003-9406
ISSN	1003-9406
DOI	10.3760/cma.j.cn511374-20210205-00114
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Article: [Identification of a novel frameshift variant in the KMT2A gene of a child with Wiedemann-Steiner syndrome].

Wu, Ruohao / Tang, Wenting / Qiu, Kunyin / Zhang, Xu / Meng, Zhe

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

2022 Volume 39, Issue 6, Page(s) 630–633

Abstract: Objective: To analyze pathogenic variant s of KMT2A gene in a child with Wiedemann-Steiner syndrome (WDSTS) and provide reliable evidences for clinical diagnosis of WDSTS.: Methods: Whole-DNAs were extracted from an 9 years-old boy and his parents. ... ...

Abstract	Objective: To analyze pathogenic variant s of KMT2A gene in a child with Wiedemann-Steiner syndrome (WDSTS) and provide reliable evidences for clinical diagnosis of WDSTS. Methods: Whole-DNAs were extracted from an 9 years-old boy and his parents. Trio-whole exome sequencing (trio-WES) was performed to identify candidate pathogenic variants that can explain the boy's condition and sanger sequencing was conducted to prove it. The impact of detected variants were predicted and validated by bioinformatics tools. Results: A de novo frameshift variant c.10488dupG (p.Leu3498Thrfs41) in exon 27 of KMT2A gene was detected and this de novo variant (PS2) had not been reported in the world previously. This frameshift variant was absent in major allele frequency databases (PM2) and had been predicted to be pathogenic based on MutationTaster. Through HomoloGene and CD-search system, the 3498 locus (Leu) in KMT2A protein, which was an important histone modifying enzyme that regulated gene expression in early embryonic development and encoded by the KMT2A gene, was predicted as a high conserved locus (PP3), and that replacement of Lue3498 may result in frame-shifts with premature termination in 3539 locus by introducing stop codon, causing deletion of multiple functional domains which all played important roles on histone modifications and recognition (PVS1+PM1). According to the American College of Medical Genetics and Genomics variant classification guideline, the variant c.10488dupG (p.Leu3498Thrfs41) in KMT2A was classified as pathogenic variant (PVS1+PS2+PM1+PM2+PP3). Conclusion: The patient's condition may be attributed to the de novo frameshift variant c.10488dupG (p.Leu3498Thrfs*41) in KMT2A gene. This study reported a pathogenic KMT2A variant that had not been reported previously in WDSTS, it expanded the genotypic spectrums of KMT2A variants.
MeSH term(s)	Abnormalities, Multiple/genetics ; Child ; Craniofacial Abnormalities ; Frameshift Mutation ; Growth Disorders/genetics ; Histone-Lysine N-Methyltransferase/genetics ; Humans ; Hypertrichosis/genetics ; Intellectual Disability/genetics ; Male ; Myeloid-Lymphoid Leukemia Protein/genetics
Chemical Substances	KMT2A protein, human ; Myeloid-Lymphoid Leukemia Protein (149025-06-9) ; Histone-Lysine N-Methyltransferase (EC 2.1.1.43)
Language	Chinese
Publishing date	2022-06-30
Publishing country	China
Document type	Journal Article
ISSN	1003-9406
ISSN	1003-9406
DOI	10.3760/cma.j.cn511374-20210208-00122
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Article ; Online: Clinical significance of nonerythrocytic spectrin Beta 1 (SPTBN1) in human kidney renal clear cell carcinoma and uveal melanoma: a study based on Pan-Cancer Analysis.

Tang, Wenting / Shao, Qiong / He, Zhanwen / Zhang, Xu / Li, Xiaojuan / Wu, Ruohao

BMC cancer

2023 Volume 23, Issue 1, Page(s) 303

Abstract: Background: Nonerythrocytic spectrin beta 1 (SPTBN1) is an important cytoskeletal protein that involves in normal cell growth and development via regulating TGFβ/Smad signaling pathway, and is aberrantly expressed in various cancer types. But, the exact ...

Abstract	Background: Nonerythrocytic spectrin beta 1 (SPTBN1) is an important cytoskeletal protein that involves in normal cell growth and development via regulating TGFβ/Smad signaling pathway, and is aberrantly expressed in various cancer types. But, the exact role of SPTBN1 in pan-cancer is still unclear. This report aimed to display expression patterns and prognostic landscapes of SPTBN1 in human cancers, and further assess its prognostic/therapeutic value and immunological role in kidney renal carcinoma (KIRC) and uveal melanoma (UVM). Methods: We firstly analyzed expression patterns and prognostic landscapes of SPTBN1 in human cancers using various databases and web-based tools. The relationships between SPTBN1 expression and survival/tumor immunity in KIRC and UVM were further investigated via R packages and TIMER 2.0 platform. The therapeutic roles of SPTBN1 in KIRC and UVM were also explored via R software. Following this, the prognostic value and cancer immunological role of SPTBN1 in KIRC and UVM were validated in our cancer patients and GEO database. Results: Overall, cancer tissue had a lower expression level of SPTBN1 frequently in pan-cancer, compared with those in adjacent nontumor one. SPTBN1 expression often showed a different effect on survival in pan-cancer; upregulation of SPTBN1 was protective to the survival of KIRC individuals, which was contrary from what was found in UVM patients. In KIRC, there were significant negative associations between SPTBN1 expression and pro-tumor immune cell infiltration, including Treg cell, Th2 cell, monocyte and M2-macrophage, and expression of immune modulator genes, such as tumor necrosis factor superfamily member 9 (TNFSF9); while, in UVM, these correlations exhibited opposite patterns. The following survival and expression correlation analysis in our cancer cohorts and GEO database confirmed these previous findings. Moreover, we also found that SPTBN1 was potentially involved in the resistance of immunotherapy in KIRC, and the enhance of anti-cancer targeted treatment in UVM. Conclusions: The current study presented compelling evidence that SPTBN1 might be a novel prognostic and therapy-related biomarker in KIRC and UVM, shedding new light on anti-cancer strategy.
MeSH term(s)	Humans ; Carcinoma, Renal Cell/genetics ; Spectrin ; Clinical Relevance ; Kidney Neoplasms/genetics ; Kidney
Chemical Substances	Spectrin (12634-43-4) ; SPTBN1 protein, human
Language	English
Publishing date	2023-04-03
Publishing country	England
Document type	Journal Article
ZDB-ID	2041352-X
ISSN	1471-2407 ; 1471-2407
ISSN (online)	1471-2407
ISSN	1471-2407
DOI	10.1186/s12885-023-10789-3
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Article ; Online: Development and validation of a nomogram based on common biochemical indicators for survival prediction of children with high-risk neuroblastoma: A valuable tool for resource-limited hospitals.

Wu, Ruohao / Li, Xiaohui / Chen, Zhishan / Shao, Qiong / Zhang, Xiao / Tang, Wenting / Hu, Bo

BMC pediatrics

2023 Volume 23, Issue 1, Page(s) 426

Abstract: Background: Despite multiple attempts have been made to develop risk stratification within high-risk neuroblastoma (NB) patients (age of diagnosis ≥ 18 month-old with metastatic NB), the definition of "ultra high-risk NB" is still lack of consensus, and ...

Abstract	Background: Despite multiple attempts have been made to develop risk stratification within high-risk neuroblastoma (NB) patients (age of diagnosis ≥ 18 month-old with metastatic NB), the definition of "ultra high-risk NB" is still lack of consensus, and indicators for identifying this subgroup are still unclear. This study aimed to develop a nomogram based on easy-to-obtain blood-derived biofactors for identifying ultra high-risk NB patients with highest risk of death within 3 or 5 years. Methods: One hundred sixty-seven NB patients who treated at Sun Yat-sen University Cancer Center between 2015 and 2023 were recruited and clustered randomly into training and validation cohorts (116 and 51 cases, respectively). Univariate and multivariate Cox analysis were performed in training set to screen independent prognostic indicators for constructing nomogram model of predicting 1-, 3- and 5-year overall survival (OS). The discrimination power of the nomogram in training and validation sets were assessed by concordance index (C-index) and calibration plot. Based on the risk score obtained from nomogram model, the prognostic accuracy of 1-, 3- and 5-year OS rates in training and validation cohorts were further evaluated using the area under receiver operating characteristic (ROC) curves (AUC). Results: Through univariate and multivariate Cox analysis, independent prognostic indicators, including serum lactate dehydrogenase (LDH) and albumin (ALB), were identified in training set, and used to establish a nomogram model. The model showed good discrimination power with C-index in training cohort being 0.706 (95%CI: 0.633-0.788). According to the cut-point calculated based on the established nomogram, patients with a nomogram score > 34 points could be stratified to ultra high-risk NB subgroup, and this subgroup had poorer OS than those in non-ultra one (p < 0.001). AUC values of ROC curves for 3- and 5-year OS rates in the training set were 0.758 and 0.756, respectively. Moreover, based on the cut-point score (34 points) developed in training set, The model also showed good discrimination power with C-index of 0.773 (95%CI: 0.664-0.897) and powerful prognostic accuracy of AUC for 3- and 5-year OS rates being 0.825 and 0.826, respectively, in validation cohort. Conclusions: We developed a simple-to-use nomogram based on common laboratory indicators to identify the subgroup of ultra high-risk NB before treatment, providing these children even from developing countries or regions access to intensified multimodal treatments earlier and thus improving their long-term outcome.
MeSH term(s)	Humans ; Child ; Infant ; Nomograms ; Albumins ; Combined Modality Therapy ; Hospitals ; Neuroblastoma/diagnosis
Chemical Substances	Albumins
Language	English
Publishing date	2023-08-26
Publishing country	England
Document type	Journal Article
ZDB-ID	2041342-7
ISSN	1471-2431 ; 1471-2431
ISSN (online)	1471-2431
ISSN	1471-2431
DOI	10.1186/s12887-023-04228-2
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Article: Rituximab may cause higher mortality in young autoimmune disease patients with rituximab-induced interstitial lung disease: A case report and systematic review of the literature.

He, Zhanwen / Wu, Ruohao / Bai, Ping / Qiu, Kunyin

International journal of clinical pharmacology and therapeutics

2020 Volume 58, Issue 12, Page(s) 740–748

Abstract: Background: MOG-IgG-associated encephalomyelitis (MOG-EM), a of common type of autoimmune encephalomyelitis (AE), is an autoimmune disease (AID) of the central nervous system that predominantly affects the brain and spinal cord. Rituximab (RTX) - a ... ...

Abstract	Background: MOG-IgG-associated encephalomyelitis (MOG-EM), a of common type of autoimmune encephalomyelitis (AE), is an autoimmune disease (AID) of the central nervous system that predominantly affects the brain and spinal cord. Rituximab (RTX) - a chimeric anti-CD20 monoclonal antibody - has been increasingly used as an effective immunotherapeutic agent in the treatment of AE. However, interstitial lung disease (ILD) is an exceedingly rare but potentially fatal complication of RTX treatment. Case report and review of the literature: Herein, we describe the first case of RTX-induced ILD (R-ILD) in a teenager with MOG-EM. In addition, we systematically review the literature on R-ILD cases in patients with AID and discuss the clinical characteristics of R-ILD in individuals with differential diagnosis of AID. Conclusion: R-ILD should be suspected in patients with AE undergoing RTX treatment who present with dyspnea and/or cough without any signs or symptoms of infection. Meanwhile, by reviewing the literature systematically, we suggest that regardless of the dosage, RTX therapy for AID should be very cautious and well-monitored especially in young individuals including age groups of children, adolescents, and young adults due to the possibility of relatively higher mortality caused by R-ILD.
MeSH term(s)	Antibodies, Monoclonal ; Autoimmune Diseases ; Humans ; Immunologic Factors/adverse effects ; Lung Diseases, Interstitial/chemically induced ; Lung Diseases, Interstitial/diagnosis ; Rituximab/adverse effects
Chemical Substances	Antibodies, Monoclonal ; Immunologic Factors ; Rituximab (4F4X42SYQ6)
Language	English
Publishing date	2020-09-10
Publishing country	Germany
Document type	Case Reports ; Journal Article ; Systematic Review
ZDB-ID	124384-6
ISSN	0946-1965 ; 0340-0026 ; 0300-9718 ; 0174-4879
ISSN	0946-1965 ; 0340-0026 ; 0300-9718 ; 0174-4879
DOI	10.5414/CP203840
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Article: [Identification of a novel missense variant of the KAT6B gene in a child with Say-Barber-Biesecker-Young-Simpson syndrome].

Wu, Ruohao / Tang, Wenting / Qiu, Kunyin / Li, Yu / He, Zhanwen

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

2021 Volume 38, Issue 6, Page(s) 561–564

Abstract: Objective: To explore the genetic basis for a child suspected for Say-Barber-Biesecker-Young-Simpson syndrome.: Methods: Genomic DNA was extracted from peripheral blood samples of the child and her parents. Whole exome sequencing was carried out for ... ...

Abstract	Objective: To explore the genetic basis for a child suspected for Say-Barber-Biesecker-Young-Simpson syndrome. Methods: Genomic DNA was extracted from peripheral blood samples of the child and her parents. Whole exome sequencing was carried out for the proband. Suspected variants were validated by Sanger sequencing. The impact of the variants was predicted by bioinformatic analysis. Results: The child was found to harbor a de novo missense variant c.2623C>T (p.Asp875Tyr) in exon 13 of the KAT6B gene. The variant was previously unreported, and was not recorded in the major allele frequency database and predicted to be pathogenic based on PolyPhen-2, MutationTaster and PROVEAN analysis. As predicted by UCSF chimera and CASTp software, the variant can severely impact the substrate-binding pocket of histone acetyltransferase, resulting in loss of its enzymatic activity. Based on standards and guidelines by the American College of Medical Genetics and Genomics, the variant was classified to be likely pathogenic (PS2+PM2+PP3). Conclusion: The child's condition may be attributed to the de novo missense c.2623C>T (p.Asp875Tyr) variant of the KAT6B gene.
MeSH term(s)	Blepharophimosis ; Child ; Congenital Hypothyroidism ; Facies ; Female ; Heart Defects, Congenital ; Histone Acetyltransferases/genetics ; Humans ; Intellectual Disability ; Joint Instability ; Mutation ; Phenotype
Chemical Substances	Histone Acetyltransferases (EC 2.3.1.48) ; KAT6B protein, human (EC 2.3.1.48)
Language	Chinese
Publishing date	2021-05-19
Publishing country	China
Document type	Case Reports ; Journal Article
ISSN	1003-9406
ISSN	1003-9406
DOI	10.3760/cma.j.cn511374-20200423-00299
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Article: [Analysis of a child with congenital muscular dystrophy due to a novel variant of the LMNA gene].

Tang, Wenting / Wu, Ruohao / Qiu, Kunyin / Zhang, Xu / He, Zhanwen

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

2021 Volume 38, Issue 9, Page(s) 857–860

Abstract: Objective: To report on a patient with congenital muscular dystrophy (CMD) due to a missense variant of LMNA gene and explore its pathogenicity.: Methods: The 1-year-and-1-month-old boy has presented with motor development delay and elevation of ... ...

Abstract	Objective: To report on a patient with congenital muscular dystrophy (CMD) due to a missense variant of LMNA gene and explore its pathogenicity. Methods: The 1-year-and-1-month-old boy has presented with motor development delay and elevation of muscle enzymes for more than half a year. Congenital myopathy was suspected. Following muscle biopsy, HE staining, immunostaining and electron microscopy were conducted to clarify the clinical diagnosis. Meanwhile, DNA was extracted from the child and his parents' peripheral venous blood samples. Trio-whole exome sequencing (trio-WES) was carried out to detect pathogenic variant in the child. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. Results: Both light and electron microscopy showed a large area of necrotic muscle tissues with infiltration of inflammatory cells. Immunohistochemistry revealed a large amount of muscle cells to be diffusely positive for Dysferlin. The patient's motor delays, elevations of muscle enzymes and histopathological results suggested a clinical diagnosis of CMD. A de novo missense c.1072G>A (p.E358K) variant was detected in the LMNA gene by trio-WES. The variant was unreported previously (PS2) and was absent from major allele frequency databases (PM2). It was a loss of function variant and was considered as hotspot variant in the LMNA gene (PM1) as the amino acid (E), located in position 358, was highly conserved, and change of this amino acid was found to cause destruction of the filament domain (AA: 30-386), which may result in serious damage to the intermediate filament protein. Furthermore, c.1072G>A (p. E358K) in LMNA gene was also predicted to be pathogenic based on MutationTaster, PROVEAN and PolyPhen-2 (PP3) analysis. According to the guidelines of the American College of Medical Genetics and Genomics (ACMG), the variant was classified to be likely pathogenic (PS2+PM1+PM2+PP3). Conclusion: The child's condition may be attributed to the de novo missense c.1072 G>A (p.E358K) variant of the LMNA gene. Above discovery has expanded the variant spectrum of the LMNA gene.
MeSH term(s)	Gene Frequency ; Genomics ; Humans ; Infant ; Lamin Type A/genetics ; Male ; Muscular Dystrophies/genetics ; Mutation ; Whole Exome Sequencing
Chemical Substances	LMNA protein, human ; Lamin Type A
Language	Chinese
Publishing date	2021-09-16
Publishing country	China
Document type	Case Reports ; Journal Article
ISSN	1003-9406
ISSN	1003-9406
DOI	10.3760/cma.j.cn511374-20201012-00711
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Article: [Clinical and genetic analysis of a family with autosomal dominant-familial Mediterranean fever].

Li, Dongfang / Tang, Wenting / Qiu, Kunyin / Pan, Liangwu / Li, Xiaojuan / Wu, Ruohao

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

2021 Volume 38, Issue 8, Page(s) 719–722

Abstract: Objective: To analyze a pathogenic variant of MEFV gene in a family with autosomal dominant-familial Mediterranean fever (AD-FMF).: Methods: A 5-year-old boy presented with recurrent aseptic meningitis and his major symptoms included recurrent fever ... ...

Abstract	Objective: To analyze a pathogenic variant of MEFV gene in a family with autosomal dominant-familial Mediterranean fever (AD-FMF). Methods: A 5-year-old boy presented with recurrent aseptic meningitis and his major symptoms included recurrent fever with headache and vomiting. His family members including his mother, sister and brother also had recurrent fever. A genetic disease was considered. DNAs were extracted from patient and all his family members' blood samples. Whole exome sequencing was performed to identify putative pathogenic variants that can explain this family's condition and Sanger sequencing was conducted. The impact of detected variants were predicted and validated by bioinformatics. Results: A missense variant c.2229C>G (p.Phe743Leu) in MEFV gene was identified in the proband and his family members including his mother, sister and brother. This variant had not been reported in China previously, but the locus of it had already been reported in Arabic patient with AD-FMF (PS1). This variant was absent in major allele frequency databases (PM2) and had been predicted to be pathogenic based on Mutationtaster, PROVEAN and PolyPhen-2. In addition, the change of amino acid, locating in 743 locus of pyrin protein, encoding by MEFV gene, was found to cause SPRY_PRY_TRIM20 and SPRY_superfamily domain destroyed and finally influenced the fuction of pyrin protein. On the other hand, using UCSF chimera software, we find the variant c.2229C>G (p.Phe743Leu) can induce serious influence to the spatial structure of pyrin protein and loss of protein fuction (PP3). According to the ACMG variant classification guideline, the variant c.2229C>G (p.Phe743Leu) in MEFV gene was classified as likely pathogenic (PS1+PM2+PP3). Conclusion: The condition of this AD-FMF family may be attributed to the missense variant c.2229C>G (p.Phe743Leu) in MEFV gene. The recurrent aseptic meningitis was a very rare manifestation in AD-FMF patients and had not been reported in China previously. The clinical and genetic findings of the present study are helpful for the further understanding of AD-FMF.
MeSH term(s)	Child, Preschool ; Familial Mediterranean Fever/genetics ; Gene Frequency ; Genetic Testing ; Humans ; Male ; Mutation ; Pyrin/genetics ; Whole Exome Sequencing
Chemical Substances	MEFV protein, human ; Pyrin
Language	Chinese
Publishing date	2021-08-08
Publishing country	China
Document type	Case Reports ; Journal Article
ISSN	1003-9406
ISSN	1003-9406
DOI	10.3760/cma.j.cn511374-20200318-00175
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Article: An Integrative Pan-Cancer Analysis of the Prognostic and Immunological Role of Casein Kinase 2 Alpha Protein 1 (CSNK2A1) in Human Cancers: A Study Based on Bioinformatics and Immunohistochemical Analysis.

Wu, Ruohao / Tang, Wenting / Qiu, Kunyin / Li, Pinggan / Li, Yu / Li, Dongfang / He, Zhanwen

International journal of general medicine

2021 Volume 14, Page(s) 6215–6232

Abstract: Background: Although emerging animal- or cell-based evidence supports the relationship between casein kinase 2 alpha protein 1 (CSNK2A1) and cancers, no pan-cancer analysis is available. Thus, this report aimed to display the prognostic landscape of ... ...

Abstract	Background: Although emerging animal- or cell-based evidence supports the relationship between casein kinase 2 alpha protein 1 (CSNK2A1) and cancers, no pan-cancer analysis is available. Thus, this report aimed to display the prognostic landscape of CSNK2A1 in pan-cancer and investigate the relationship between CSNK2A1 and tumor immunity. Methods: In the current study, we investigated the expression pattern, genetic alterations and survival analysis of CSNK2A1 in pan-cancer across multiple datasets and online platforms. The correlations between CSNK2A1 expression and tumor immunity were explored and visualized via R language software. Following this, immunohistochemical (IHC) staining and Kaplan-Meier survival analysis were conducted in clinical patients for proving the bioinformatic findings. Analysis of protein-protein interaction and gene functional enrichment was conducted using GeneMANIA platform and gene set enrichment analysis (GSEA), respectively. Results: In TCGA, tumor tissue had a higher expression level of CSNK2A1 compared with that in corresponding normal tissue. An increased expression level of CSNK2A1 was related to poor clinical prognosis in most types of cancer such as LIHC. The following expression and survival analysis in clinical liver hepatocellular carcinoma (LIHC) patients confirmed these TCGA findings. CSNK2A1 expression had significant positive correlations with pro-tumor-infiltrating immune cells (TIICs) like M1-macrophages and fibroblasts, and significant negative correlations with anti-tumor-TIICs like activated CD8+ T cells and NK cells, suggesting specific interactions between CSNK2A1 and certain TIICs subtypes. Furthermore, CSNK2A1 expression had the most significant positive correlations with common markers of immune checkpoint including programmed death ligand-1 (PDL1) in LIHC. These findings were validated by an IHC analysis. GSEA analysis demonstrated that high expression of CSNK2A1 was related to cell signaling pathways and immunity-related activities. Conclusion: These findings suggested that CSNK2A1 was not only related to poor clinical prognosis in cancer like LIHC but also a novel immunotherapy-related biomarker in cancers, especially in LIHC, shedding new light on anti-tumor strategy.
Language	English
Publishing date	2021-09-29
Publishing country	New Zealand
Document type	Journal Article
ZDB-ID	2452220-X
ISSN	1178-7074
ISSN	1178-7074
DOI	10.2147/IJGM.S330500
Database	MEDical Literature Analysis and Retrieval System OnLINE

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