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  1. Article: 关于改善中枢性性早熟患儿身高获益的思考.

    Liang, Li-Yang

    Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

    2024  Volume 26, Issue 1, Page(s) 19–24

    Abstract: With the changes in various factors such as genetics and the environment, the incidence of childhood precocious puberty has been gradually increasing. Improving height is one of the key issues in the clinical management of precocious puberty. Currently, ... ...

    Title translation Considerations on the improvement of height benefit in children with central precocious puberty.
    Abstract With the changes in various factors such as genetics and the environment, the incidence of childhood precocious puberty has been gradually increasing. Improving height is one of the key issues in the clinical management of precocious puberty. Currently, gonadotropin-releasing hormone analogs (GnRHa) remain the preferred treatment for precocious puberty, but their effect on height improvement is influenced by multiple factors, which may result in lower-than-expected height benefits. Combining recombinant human growth hormone (rhGH) therapy with GnRHa treatment is an alternative strategy to enhance the efficacy of GnRHa, but there is still no clear recommendation regarding the timing of their combination. Considering the current status of precocious puberty treatment, it is crucial to reevaluate the effects of GnRHa monotherapy and combination therapy with rhGH on height improvement. This article discusses strategies such as combination therapy indications to guide clinical medication and help children with precocious puberty achieve optimal height benefits.
    MeSH term(s) Child ; Humans ; Puberty, Precocious/drug therapy ; Human Growth Hormone ; Combined Modality Therapy
    Chemical Substances Human Growth Hormone (12629-01-5)
    Language Chinese
    Publishing date 2024-01-22
    Publishing country China
    Document type English Abstract ; Journal Article
    ISSN 1008-8830
    ISSN 1008-8830
    DOI 10.7499/j.issn.1008-8830.2308078
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. 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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  3. Article ; Online: Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.

    Wu, Ruohao / Li, Xiaojuan / Meng, Zhe / Li, Pinggan / He, Zhanwen / Liang, Liyang

    Orphanet journal of rare diseases

    2024  Volume 19, Issue 1, Page(s) 205

    Abstract: Background: Trio-based whole-exome sequencing (trio-WES) enables identification of pathogenic variants, including copy-number variants (CNVs), in children with unexplained neurodevelopmental delay (NDD) and neurodevelopmental comorbidities (NDCs), ... ...

    Abstract Background: Trio-based whole-exome sequencing (trio-WES) enables identification of pathogenic variants, including copy-number variants (CNVs), in children with unexplained neurodevelopmental delay (NDD) and neurodevelopmental comorbidities (NDCs), including autism spectrum disorder (ASD), epilepsy, and attention deficit hyperactivity disorder. Further phenotypic and genetic analysis on trio-WES-tested NDD-NDCs cases may help to identify key phenotypic factors related to higher diagnostic yield of using trio-WES and novel risk genes associated with NDCs in clinical settings.
    Methods: In this study, we retrospectively performed phenotypic analysis on 163 trio-WES-tested NDD-NDCs children to determine the phenotypic differences between genetically diagnosed and non-genetically diagnosed groups. Additionally, we conducted genetic analysis of ASD genes with the help of Simons Foundation for Autism Research Institute (SFARI) Gene database to identify novel possible ASD-risk genes underlying genetic NDD conditions.
    Results: Among these 163 patients, pathogenic variants were identified in 82 cases (82/163, 50.3%), including 20 cases with CNVs. By comparing phenotypic variables between genetically diagnosed group (82 cases) and non-genetically diagnosed group (81 cases) with multivariate binary logistic regression analysis, we revealed that NDD-NDCs cases presenting with severe-profound NDD [53/82 vs 17/81, adjusted-OR (95%CI): 4.865 (2.213 - 10.694), adjusted-P < 0.001] or having multiple NDCs [26/82 vs 8/81, adjusted-OR (95%CI): 3.731 (1.399 - 9.950), adjusted-P = 0.009] or accompanying ASD [64/82 vs 35/81, adjusted-OR (95%CI): 3.256 (1.479 - 7.168), adjusted-P = 0.003] and head circumference abnormality [33/82 vs 11/81, adjusted-OR (95%CI): 2.788 (1.148 - 6.774), adjusted-P = 0.024] were more likely to have a genetic diagnosis using trio-WES. Moreover, 37 genes with monogenetic variants were identified in 48 patients genetically diagnosed with NDD-ASD, and 15 dosage-sensitive genes were identified in 16 individuals with NDD-ASD carrying CNVs. Most of those genes had been proven to be ASD-related genes. However, some of them (9 genes) were not proven sufficiently to correlate with ASD. By literature review and constructing protein-protein interaction networks among these 9 candidate ASD-risk genes and 102 established ASD genes obtained from the SFARI Gene database, we identified CUL4B, KCNH1, and PLA2G6 as novel possible ASD-risk genes underlying genetic NDD conditions.
    Conclusions: Trio-WES testing is recommended for patients with unexplained NDD-NDCs that have severe-profound NDD or multiple NDCs, particularly those with accompanying ASD and head circumference abnormality, as these independent factors may increase the likelihood of genetic diagnosis using trio-WES. Moreover, NDD patients with pathogenic variants in CUL4B, KCNH1 and PLA2G6 should be aware of potential risks of developing ASD during their disease courses.
    MeSH term(s) Humans ; Exome Sequencing/methods ; Female ; Male ; Child ; Child, Preschool ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/epidemiology ; Autism Spectrum Disorder/genetics ; Retrospective Studies ; DNA Copy Number Variations/genetics ; Phenotype ; Adolescent ; Infant ; Developmental Disabilities/genetics ; Developmental Disabilities/epidemiology ; East Asian People
    Language English
    Publishing date 2024-05-19
    Publishing country England
    Document type Journal Article
    ZDB-ID 2225857-7
    ISSN 1750-1172 ; 1750-1172
    ISSN (online) 1750-1172
    ISSN 1750-1172
    DOI 10.1186/s13023-024-03214-w
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  4. Article ; Online: Silica-induced macrophage pyroptosis propels pulmonary fibrosis through coordinated activation of relaxin and osteoclast differentiation signaling to reprogram fibroblasts.

    Tian, Jiaqi / Song, Dandan / Peng, Yanjie / Zhang, Jing / Ma, Lan / Chen, Zhen / Liang, Liyang / Zhang, Zitong / Yun, Xiang / Zhang, Lin

    Ecotoxicology and environmental safety

    2024  Volume 273, Page(s) 116106

    Abstract: Silica nanoparticle (SiNP) exposure induces severe pulmonary inflammation and fibrosis, but the pathogenesis remains unclear, and effective therapies are currently lacking. To explore the mechanism underlying SiNPs-induced pulmonary fibrosis, we ... ...

    Abstract Silica nanoparticle (SiNP) exposure induces severe pulmonary inflammation and fibrosis, but the pathogenesis remains unclear, and effective therapies are currently lacking. To explore the mechanism underlying SiNPs-induced pulmonary fibrosis, we constructed in vivo silica exposure animal models and in vitro models of silica-induced macrophage pyroptosis and fibroblast transdifferentiation. We found that SiNP exposure elicits upregulation of pulmonary proteins associated with pyroptosis, including NLRP3, ASC, IL-1β, and GSDMD, while the immunofluorescence staining co-localized NLRP3 and GSDMD with macrophage-specific biomarker F4/80 in silica-exposed lung tissues. However, the NLRP3 inhibitor MCC950 and classical anti-fibrosis drug pirfenidone (PFD) were found to be able to alleviate silica-induced collagen deposition in the lungs. In in vitro studies, we exposed the fibroblast to a conditioned medium from silica-induced pyroptotic macrophages and found enhanced expression of α-SMA, suggesting increased transdifferentiation of fibroblast to myofibroblast. In line with in vivo studies, the combined treatment of MCC950 and PFD was demonstrated to inhibit the expression of α-SMA and attenuate fibroblast transdifferentiation. Mechanistically, we adopted high throughput RNA sequencing on fibroblast with different treatments and found activated signaling of relaxin and osteoclast differentiation pathways, where the expression of the dysregulated genes in these two pathways was examined and found to be consistently altered both in vitro and in vivo. Collectively, our study demonstrates that SiNP exposure induces macrophage pyroptosis, which subsequently causes fibroblast transdifferentiation to myofibroblasts, in which the relaxin and osteoclast differentiation signaling pathways play crucial roles. These findings may provide valuable references for developing new therapies for pulmonary fibrosis.
    MeSH term(s) Animals ; Pulmonary Fibrosis/metabolism ; NLR Family, Pyrin Domain-Containing 3 Protein/genetics ; NLR Family, Pyrin Domain-Containing 3 Protein/metabolism ; Silicon Dioxide/toxicity ; Relaxin/metabolism ; Relaxin/pharmacology ; Pyroptosis/physiology ; Osteoclasts/metabolism ; Osteoclasts/pathology ; Fibroblasts ; Fibrosis ; Macrophages
    Chemical Substances NLR Family, Pyrin Domain-Containing 3 Protein ; Silicon Dioxide (7631-86-9) ; Relaxin (9002-69-1)
    Language English
    Publishing date 2024-02-19
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 436536-7
    ISSN 1090-2414 ; 0147-6513
    ISSN (online) 1090-2414
    ISSN 0147-6513
    DOI 10.1016/j.ecoenv.2024.116106
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1418: Show issues Location:
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  5. Article: Primary erythromelalgia mainly manifested by hypertensive crisis: A case report and literature review.

    Feng, Shuo / He, Zhanwen / Que, Liping / Luo, Xiangyang / Liang, Liyang / Li, Dongfang / Qin, Lijun

    Frontiers in pediatrics

    2022  Volume 10, Page(s) 796149

    Abstract: Background: Primary erythrocytic (PEM) is a rare autosomal dominant single gene disease. Most of the changes of gene loci can be found by whole exon gene sequencing, and the clinical symptoms and patient survival can be improved by specific site-to-site ...

    Abstract Background: Primary erythrocytic (PEM) is a rare autosomal dominant single gene disease. Most of the changes of gene loci can be found by whole exon gene sequencing, and the clinical symptoms and patient survival can be improved by specific site-to-site drug treatment. The other manifestations of this patient population are not remarkable. After the application of common drugs, the toxicity and side effects can be limiting. In addition to other common clinical manifestations, we found that the only unique manifestation of this patient was hypertensive crisis. Following multidisciplinary diagnosis and treatment (MDT), we decided to first control hypertension to alleviate the acute and critical patients. However, after controlling the hypertensive crisis, we unexpectedly found that the clinical symptoms of the patients had been significantly improved. Therefore, we concluded that the use of antihypertensive drugs can treat erythematous limb pain with the clinical manifestation of hypertensive crisis. Here, we describe a typical PEM disease, primary clinical features, diagnosis and treatment.
    Methods: Medical records of an 8-year-old boy with PEM were analyzed retrospectively, which included clinical characteristics, follow-up information, and SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9) gene analysis.
    Results: The 8-year-old boy had complained of abnormal paresthesia in his feet and ankles with burning sensation and pain for 2 years. The skin of both lower legs was red and underwent ichthyosis and lichenification. Genetic analysis confirmed the existence of a SCN9A gene mutation. The symptoms were gradually improved by treating with intravenous drip and oral administration of nitroglycerin to slow his heart rhythm.
    Conclusion: Primary erythrocytic is characterized by skin ulceration, redness, elevated temperature, and severe burning pain primarily in both lower extremities. PEM can be diagnosed by genetic analysis. As this case demonstrates, treating with nitroglycerin as the drug of choice to control the hypertensive crisis significantly improved the symptoms of PEM and hypertension in this patient.
    Language English
    Publishing date 2022-08-16
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2022.796149
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  6. Article ; Online: Efficacy and safety of leuprorelin 3-month depot (11.25 mg) for idiopathic central precocious puberty treatment of Chinese girls: a single-center retrospective study.

    Huang, Siqi / Zhang, Lina / Gao, Chenchen / Ou, Hui / Hou, Lele / Liu, Zulin / Wang, Dilong / Xu, Yingying / Liang, Liyang / Meng, Zhe

    Journal of pediatric endocrinology & metabolism : JPEM

    2023  Volume 37, Issue 1, Page(s) 15–20

    Abstract: Objectives: This study aimed to evaluate the efficacy and safety of 3-month leuprorelin acetate (3-month LA, 11.25 mg) for the treatment of idiopathic central precocious puberty (ICPP) in Chinese girls.: Methods: We conducted a single-center ... ...

    Abstract Objectives: This study aimed to evaluate the efficacy and safety of 3-month leuprorelin acetate (3-month LA, 11.25 mg) for the treatment of idiopathic central precocious puberty (ICPP) in Chinese girls.
    Methods: We conducted a single-center retrospective study in China on 28 girls with ICPP who received at least one year of 3-month LA treatment. Data from anthropometry, biochemistry, bone age (BA), and pelvic ultrasonography were assessed before and every 6 months during medication.
    Results: At CPP diagnosis, the mean chronological age (CA) was 7.8±0.8 years, with bone age advancement (BA-CA) of 1.5±0.8 years. After treatment initiation, growth velocity decreased significantly from 8.5±1.6 cm/year to 5.8±1.1 cm/year at month 12 (p<0.001). GnRH-stimulated peak LH ≤3IU/L, the primary efficacy criterion, was observed in 27 out of 28 (96.4 %) children at month 3. Basal estradiol <20 pg/mL was achieved by all 28 girls (100 %) at month 6 and remained stable at month 12. Basal follicle-stimulating hormone (FSH) decreased from 4.1±3.5 to 1.7±0.9 (p<0.001), and basal LH was also significantly reduced from 3.3±6.5 to 0.7±0.8 (p=0.035) at month 12. The mean predicted adult height (PAH) at treatment initiation was 152.7±5.8 cm, it increased significantly to 157.5±5.5 cm (p=0.007) after one-year treatment. Pubertal development was slowed in most patients, and in some cases, it was even reversed. Only one patient (3.6 %) reported local intolerance.
    Conclusions: Three-month leuprorelin acetate is a safe and effective treatment for suppressing the pituitary-gonadal axis and restoring impaired adult height in Chinese girls.
    MeSH term(s) Child ; Female ; Humans ; Infant ; Child, Preschool ; Leuprolide/adverse effects ; Puberty, Precocious/drug therapy ; Gonadotropin-Releasing Hormone/therapeutic use ; Retrospective Studies ; Luteinizing Hormone ; Acetates/therapeutic use ; Body Height
    Chemical Substances Leuprolide (EFY6W0M8TG) ; Gonadotropin-Releasing Hormone (33515-09-2) ; Luteinizing Hormone (9002-67-9) ; Acetates
    Language English
    Publishing date 2023-11-20
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 1231070-0
    ISSN 2191-0251 ; 0334-018X
    ISSN (online) 2191-0251
    ISSN 0334-018X
    DOI 10.1515/jpem-2023-0410
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2258: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  7. Article: Clinical application of artificial intelligence in longitudinal image analysis of bone age among GHD patients.

    Zhang, Lina / Chen, Jia / Hou, Lele / Xu, Yingying / Liu, Zulin / Huang, Siqi / Ou, Hui / Meng, Zhe / Liang, Liyang

    Frontiers in pediatrics

    2022  Volume 10, Page(s) 986500

    Abstract: Objective: This study aims to explore the clinical value of artificial intelligence (AI)-assisted bone age assessment (BAA) among children with growth hormone deficiency (GHD).: Methods: A total of 290 bone age (BA) radiographs were collected from 52 ...

    Abstract Objective: This study aims to explore the clinical value of artificial intelligence (AI)-assisted bone age assessment (BAA) among children with growth hormone deficiency (GHD).
    Methods: A total of 290 bone age (BA) radiographs were collected from 52 children who participated in the study at Sun Yat-sen Memorial Hospital between January 2016 and August 2017. Senior pediatric endocrinologists independently evaluated BA according to the China 05 (CH05) method, and their consistent results were regarded as the gold standard (GS). Meanwhile, two junior pediatric endocrinologists were asked to assessed BA both with and without assistance from the AI-based BA evaluation system. Six months later, around 20% of the images assessed by the junior pediatric endocrinologists were randomly selected to be re-evaluated with the same procedure half a year later. Root mean square error (RMSE), mean absolute error (MAE), accuracy, and Bland-Altman plots were used to compare differences in BA. The intra-class correlation coefficient (ICC) and one-way repeated ANOVA were used to assess inter- and intra-observer variabilities in BAA. A boxplot of BA evaluated by different raters during the course of treatment and a mixed linear model were used to illustrate inter-rater effect over time.
    Results: A total of 52 children with GHD were included, with mean chronological age and BA by GS of 6.64 ± 2.49 and 5.85 ± 2.30 years at baseline, respectively. After incorporating AI assistance, the performance of the junior pediatric endocrinologists improved (
    Conclusion: AI-assisted interpretation of BA can improve accuracy and decrease variability in results among junior pediatric endocrinologists in longitudinal cohort studies, which shows potential for further clinical application.
    Language English
    Publishing date 2022-11-11
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2022.986500
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  8. Article: [Identification of a novel missense NIPBL variant in a juvenile with severe type of Cornelia de Lange syndrome].

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

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

    2020  Volume 37, Issue 5, Page(s) 535–538

    Abstract: Objective: To detect pathogenic variant in a juvenile with severe type Cornelia de Lange syndrome (CdLS).: Methods: A 12-year-old female presented with comprehensive developmental retardation and deformity of lower limbs. Genomic DNA was extracted ... ...

    Abstract Objective: To detect pathogenic variant in a juvenile with severe type Cornelia de Lange syndrome (CdLS).
    Methods: A 12-year-old female presented with comprehensive developmental retardation and deformity of lower limbs. Genomic DNA was extracted from peripheral blood sample of the patient. Whole exome sequencing was performed to identify pathogenic variants. Putative variant was verified by Sanger sequencing. The impact of variants was predicted and validated by bioinformatic analysis.
    Results: A de novo missense variant, c.1507A>G (p. Lys503Glu), was found in the NIPBL gene of the proband. The variant was unreported previously and predicted to be pathogenic by PolyPhen-2, MutationTaster and SIFT. Using HomoloGene system, the 503 loci in the NIPBL protein are highly conserved. The change of amino acid (Glu), locating in 503 locus, was found to cause the Neuromodulin_N superfamily domain destroyed, resulting in severe damage to the function of NIPBL protein.
    Conclusion: The de novo missense variant c.1507A>G (p. Lys503Glu) of the NIPBL gene probably underlies the disease in this patient.
    MeSH term(s) Cell Cycle Proteins/genetics ; Child ; De Lange Syndrome/genetics ; Developmental Disabilities/genetics ; Female ; Humans ; Mutation, Missense ; Phenotype
    Chemical Substances Cell Cycle Proteins ; NIPBL protein, human
    Language Chinese
    Publishing date 2020-04-25
    Publishing country China
    Document type Case Reports ; Journal Article
    ISSN 1003-9406
    ISSN 1003-9406
    DOI 10.3760/cma.j.issn.1003-9406.2020.05.010
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  9. Article: [Identification of a novel de novo variant of CSNK2A1 gene in a boy with Okur-Chung neurodevelopmental syndrome].

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

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

    2020  Volume 37, Issue 6, Page(s) 641–644

    Abstract: Objective: To analyze pathogenic variant of CSNK2A1 gene in a boy with Okur-Chung neurodevelopmental syndrome (OCNS).: Methods: The 8-year-old boy presented with growth retardation, intellectual disability and spells of breath holding. With genomic ... ...

    Abstract Objective: To analyze pathogenic variant of CSNK2A1 gene in a boy with Okur-Chung neurodevelopmental syndrome (OCNS).
    Methods: The 8-year-old boy presented with growth retardation, intellectual disability and spells of breath holding. With genomic DNA extracted from peripheral blood samples of the patient and his parents, whole exome sequencing was carried out. Putative pathogenic variants were verified with Sanger sequencing. The nature and impact of detected variants were predicted through bioinformatic analysis.
    Results: A novel de novo missense variant c.149A>G (p.Tyr50Cys) of the CSNK2A1 gene was identified, which was unreported previously. The variant was predicted to be pathogenic by PolyPhen-2, Mutation Taster and SIFT software. Based on a HomoloGene system, 50 loci within the CK2alpha protein are highly conserved. The change of amino acid (Cys) at position 50 has destroyed the ATP binding loop domain, causing serious damage to its function. As predicted by a Swiss PDB viewer, the variant can significantly alter the spatial structure of CK2alpha, resulting in loss of protein function.
    Conclusion: The patient's condition may be attributed to the novel de novo missense variant c.149A>G (p.Tyr50Cys) of the CSNK2A1 gene.
    MeSH term(s) Casein Kinase II/genetics ; Child ; Humans ; Intellectual Disability ; Male ; Mutation ; Mutation, Missense ; Neurodevelopmental Disorders/genetics ; Whole Exome Sequencing
    Chemical Substances CSNK2A1 protein, human (EC 2.7.11.1) ; Casein Kinase II (EC 2.7.11.1)
    Language Chinese
    Publishing date 2020-05-26
    Publishing country China
    Document type Case Reports ; Journal Article
    ISSN 1003-9406
    ISSN 1003-9406
    DOI 10.3760/cma.j.issn.1003-9406.2020.06.011
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: ARID2, a rare cause of Coffin-Siris syndrome: A novel microdeletion at 12q12q13.11 causing severe short stature and literature review.

    Xia, Dan / Deng, Shuyun / Gao, Chenchen / Li, Xiaojuan / Zhang, Lina / Xiao, Xiaoqin / Peng, Xiaofang / Zhang, Jieming / He, Zhanwen / Meng, Zhe / Liu, Zulin / Ouyang, Nengtai / Liang, Liyang

    American journal of medical genetics. Part A

    2023  Volume 191, Issue 5, Page(s) 1240–1249

    Abstract: Coffin-Siris syndrome (CSS) 6 is caused by heterozygous pathogenic variants in the AT-rich interaction domain 2 (ARID2) gene on 12q12. Currently, only 26 cases with both detailed clinical and genetic information have been documented in the literature. ... ...

    Abstract Coffin-Siris syndrome (CSS) 6 is caused by heterozygous pathogenic variants in the AT-rich interaction domain 2 (ARID2) gene on 12q12. Currently, only 26 cases with both detailed clinical and genetic information have been documented in the literature. Microdeletions of the entire ARID2 gene are rare. In this study, we report a 5-year-7-month-old Chinese female who underwent whole-exome sequencing to discover that she had a de novo 1.563 Mb heterozygous copy number loss at 12q12q13.11, involving an entire deletion of ARID2. The female had severe short stature with obvious dysmorphic facial features, global developmental delay and hypoplastic fingers and toes. Her growth hormone level was normal, with reduced IGF-1 and increased CA19-9 levels. After a review of the 27 patients with ARID2 deficiency, a significant positive correlation was observed between age and height standard deviation score (SDS) (r = 0.71, p = 0.0002), suggesting a possibility of growth catch-up. This study expands the genetic and phenotypic spectrum of CCS6 and provides a decision-making reference for growth hormone therapy.
    MeSH term(s) Female ; Humans ; Infant ; Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Dwarfism/genetics ; Face/pathology ; Hand Deformities, Congenital/diagnosis ; Hand Deformities, Congenital/genetics ; Hand Deformities, Congenital/pathology ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Micrognathism/diagnosis ; Micrognathism/genetics ; Micrognathism/pathology ; Neck/pathology ; Transcription Factors/genetics
    Chemical Substances ARID2 protein, human ; Transcription Factors
    Language English
    Publishing date 2023-02-09
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't ; Review
    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.63139
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