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Article ; Online: Okur-Chung neurodevelopmental syndrome: Implications for phenotype and genotype expansion.

Nan, Haitian / Chu, Min / Zhang, Jing / Jiang, Deming / Wang, Yihao / Wu, Liyong

2024 Volume 12, Issue 3, Page(s) e2398

Abstract: Background: Okur-Chung neurodevelopmental syndrome (OCNDS) is a rare autosomal dominant disorder ...

Abstract	Background: Okur-Chung neurodevelopmental syndrome (OCNDS) is a rare autosomal dominant disorder caused by pathogenic variants in CSNK2A1. It is characterized by intellectual disability, developmental delay, and multisystemic abnormalities. Methods: We performed the whole-exome sequencing for a patient in a Chinese family. The co-segregation study using the Sanger sequencing method was performed among family members. Reverse transcription and quantitative real-time polymerase chain reaction were carried out using total RNA from blood samples of the proband and wild-type control subjects. A review of patients with OCNDS harboring CSNK2A1 pathogenic variants was conducted through a comprehensive search of the PubMed database. Results: We identified a novel CSNK2A1 frameshift variant p.Tyr323Leufs16 in a Chinese family. The proband, a 31-year-old female, presented with abnormal eating habits, recurrent seizures, language impairment, and intellectual disability. Her mother exhibited postnatal hernias, splenomegaly, and a predisposition to infections, but showed no significant developmental impairments or intellectual disability. Genetic studies revealed the presence of this variant in CSNK2A1 in both the proband and her mother. Transcription analysis revealed this variant may lead to nonsense-mediated mRNA decay, suggesting haploinsufficiency as a potential disease mechanism. We reviewed 47 previously reported OCNDS cases and discovered that individuals carrying CSNK2A1 null variants may exhibit a diminished frequency of symptoms linked to language deficits, dysmorphic facial features, or intellectual disability, consequently presenting an overall milder phenotype when compared to those with missense variants. Conclusion:* We report a novel frameshift variant, p.Tyr323Leufs*16, in an OCNDS family with a generally mild phenotype. This study may broaden the spectrum of clinical presentations associated with OCNDS and contribute novel insights into the genotype-phenotype correlation of this condition.
MeSH term(s)	Adult ; Female ; Humans ; Asian People ; Databases, Factual ; Genotype ; Intellectual Disability/genetics ; Phenotype
Chemical Substances	CSNK2A1 protein, human (EC 2.7.11.1)
Language	English
Publishing date	2024-03-05
Publishing country	United States
Document type	Case Reports ; Journal Article ; Review ; Systematic Review
ZDB-ID	2734884-2
ISSN	2324-9269 ; 2324-9269
ISSN (online)	2324-9269
ISSN	2324-9269
DOI	10.1002/mgg3.2398
Database	MEDical Literature Analysis and Retrieval System OnLINE

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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 ...

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
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Article ; Online: Identification of novel variants and the genotype–phenotype relationship in patients with Okur–Chung neurodevelopmental syndrome

Ruo-hao Wu / Wen-ting Tang / Kun-yin Qiu / Xiao-juan Li / Dan-xia Tang / Zhe Meng / Zhan-wen He

Journal of International Medical Research, Vol

a case report and systematic literature review

2021 Volume 49

Abstract: ... reported in individuals with the congenital neuropsychiatric disorder Okur–Chung neurodevelopmental ...

Abstract	De novo germline variants of the casein kinase 2α subunit (CK2α) gene ( CSNK2A1 ) have been reported in individuals with the congenital neuropsychiatric disorder Okur–Chung neurodevelopmental syndrome (OCNS). Here, we report on two unrelated children with OCNS and review the literature to explore the genotype–phenotype relationship in OCNS. Both children showed facial dysmorphism, growth retardation, and neuropsychiatric disorders. Using whole-exome sequencing, we identified two novel de novo CSNK2A1 variants: c.479A>G p.(H160R) and c.238C>T p.(R80C). A search of the literature identified 12 studies that provided information on 35 CSNK2A1 variants in various protein-coding regions of CK2α. By quantitatively analyzing data related to these CSNK2A1 variants and their corresponding phenotypes, we showed for the first time that mutations in protein-coding CK2α regions appear to influence the phenotypic spectrum of OCNS. Mutations altering the ATP/GTP-binding loop were more likely to cause the widest range of phenotypes. Therefore, any assessment of clinical spectra for this disorder should be extremely thorough. This study not only expands the mutational spectrum of OCNS, but also provides a comprehensive overview to improve our understanding of the genotype–phenotype relationship in OCNS.
Keywords	Medicine (General) ; R5-920
Language	English
Publishing date	2021-05-01T00:00:00Z
Publisher	SAGE Publishing
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Hepatoprotective and antioxidant effects of Wu-Zi-Yuan-Chung-Wan against CCl-induced oxidative damage in rats

Hao-Yuan Cheng / Jung Chao / Chuan-Sung Chiu / I-Chien Hsieh / Hui-Chi Huang / Lung-Yuan Wu / Wen-Huang Peng

European Journal of Inflammation, Vol

2021 Volume 19

Abstract: This study was designed to investigate the hepatoprotective potentials of the Wu-Zi-Yuan-Chung-Wan ...

Abstract	This study was designed to investigate the hepatoprotective potentials of the Wu-Zi-Yuan-Chung-Wan (WZYCW) using an animal model of carbon tetrachloride (CCl 4 ) induced liver injury. CCl 4 induced chronic liver hepatotoxicity in adult Sprague-Dawley rats. Excluding the control group, all of the rats with chronic liver fibrosis received 0.4% CCl 4 (1.5 mL/kg of body weight, ip) twice per week for 8 weeks. WZYCW (20, 100, and 500 mg/kg) and silymarin (200 mg/kg) were administered five times per week for 8 weeks. After 8 weeks, the rats were sacrificed, blood samples were obtained, and liver histological examinations were performed for subsequent assays. These results suggest that WZYCW considerably reduced Glutamic Oxaloacetic Transaminase (GOT), Glutamic Pyruvic Transaminase (GPT), Triglyceride (TG); and cholesterol activity; and the levels of malonaldehyde (MDA), nitric oxide (NO), and transforming growth factor-β 1 (TGF-β 1 ) in the liver. WZYCW also increased the level of superoxide dismutase (SOD), catalase (CAT), glutathione peroxidase (GPx), and glutathione reductase (GR) in liver tissue. WZYCW produced hepatoprotective and antifibrotic effects. This is the first study to demonstrate that WZYCW expressed hepatoprotective activity against CCl 4 induced acute hepatotoxicity in rat. In addition, the primary compound of WZCYW was analyzed using HPLC. The major peaks of WZCYW, including schizandrin. The results indicate that WZYCW not only enhances hepatic antioxidant enzyme activities and inhibits lipid peroxidation but also suppresses inflammatory responses in CCl 4 induced liver damage. Our findings provide evidence that WZYCW possesses a hepatoprotective activity to ameliorate chronic liver injury.
Keywords	Medicine ; R
Subject code	610
Language	English
Publishing date	2021-05-01T00:00:00Z
Publisher	SAGE Publishing
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report.

Xu, Shanshan / Lian, Qun / Wu, Jinzhun / Li, Lingli / Song, Jia

BMC medical genetics

2020 Volume 21, Issue 1, Page(s) 158

Abstract: Background: Okur-Chung neurodevelopmental syndrome (OCNDS) and tricho-rhino-phalangeal syndrome ... of a dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental ...

Abstract	Background: Okur-Chung neurodevelopmental syndrome (OCNDS) and tricho-rhino-phalangeal syndrome type I (TRPSI) are rare Mendelian diseases. OCNDS is caused by CSNK2A1 gene variants and TRPSI is caused by the TRPS1gene. However, to have two Mendelian diseases in one patient is even rarer. Case presentation: A 6-year-10-month-old boy characterized by special facial features, short stature and mental retardation was referred to our pediatric endocrinology department. Whole-exome sequencing (WES) was done to detect the molecular basis of his disease. This patient was confirmed to carry two variants in the CSNK2A1 gene and one in the TRPS1 gene. The variant in the CSNK2A1 gene was vertically transmitted from his father, and the variant in TRPS1 gene from his mother. These two variants are classified as pathogenic and the causes of the presentation in this child. This patient's father and mother have subsequently been diagnosed as having OCNDS and TRPSI respectively. Conclusion: This is the first reported case of a dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in the same patient. This patient is the first published example of vertical transmission of this recurrent CSN2A1 variant from parent to child. A novel variant in the TRPS1 gene that is pathogenic was also identified. In conclusion, identification of the variants in this patient expands the phenotypes and molecular basis of dual Mendelian diseases.
MeSH term(s)	Asian Continental Ancestry Group/genetics ; Base Sequence ; Child ; Female ; Fingers/abnormalities ; Hair Diseases/genetics ; Humans ; Langer-Giedion Syndrome/genetics ; Male ; Neurodevelopmental Disorders/genetics ; Nose/abnormalities ; Pedigree
Language	English
Publishing date	2020-08-03
Publishing country	England
Document type	Case Reports ; Journal Article
ISSN	1471-2350
ISSN (online)	1471-2350
DOI	10.1186/s12881-020-01096-w
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient

Shanshan Xu / Qun Lian / Jinzhun Wu / Lingli Li / Jia Song

BMC Medical Genetics, Vol 21, Iss 1, Pp 1-

a case report

2020 Volume 6

Abstract: Abstract Background Okur-Chung neurodevelopmental syndrome (OCNDS) and tricho-rhino-phalangeal ... of a dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental ...

Abstract	Abstract Background Okur-Chung neurodevelopmental syndrome (OCNDS) and tricho-rhino-phalangeal syndrome type I (TRPSI) are rare Mendelian diseases. OCNDS is caused by CSNK2A1 gene variants and TRPSI is caused by the TRPS1gene. However, to have two Mendelian diseases in one patient is even rarer. Case presentation A 6-year-10-month-old boy characterized by special facial features, short stature and mental retardation was referred to our pediatric endocrinology department. Whole-exome sequencing (WES) was done to detect the molecular basis of his disease. This patient was confirmed to carry two variants in the CSNK2A1 gene and one in the TRPS1 gene. The variant in the CSNK2A1 gene was vertically transmitted from his father, and the variant in TRPS1 gene from his mother. These two variants are classified as pathogenic and the causes of the presentation in this child. This patient’s father and mother have subsequently been diagnosed as having OCNDS and TRPSI respectively. Conclusion This is the first reported case of a dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in the same patient. This patient is the first published example of vertical transmission of this recurrent CSN2A1 variant from parent to child. A novel variant in the TRPS1 gene that is pathogenic was also identified. In conclusion, identification of the variants in this patient expands the phenotypes and molecular basis of dual Mendelian diseases.
Keywords	CSNK2A1 ; TRPS1 ; Tricho-rhino-phalangeal syndrome type I ; Okur-Chung neurodevelopmental syndrome ; Dual molecular diagnosis ; Case report ; Internal medicine ; RC31-1245 ; Genetics ; QH426-470
Subject code	572
Language	English
Publishing date	2020-08-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Associations between Tai Chi Chung program, anxiety, and cardiovascular risk factors.

Chang, Mei-Ying / Yeh, Shu-Chuan Jennifer / Chu, Mei-Chi / Wu, Tsung-Mao / Huang, Tse-Hung

American journal of health promotion : AJHP

2013 Volume 28, Issue 1, Page(s) 16–22

Abstract: Purpose: To examine the effects of a Tai Chi Chung (TCC) program, an efficiency approach ...

Abstract	Purpose: To examine the effects of a Tai Chi Chung (TCC) program, an efficiency approach, on anxiety and cardiovascular risk factors. Design: A quasi-experimental study. Setting: A community in Taipei City, Taiwan. Subjects. One hundred thirty-three adults aged 55 years and older. Intervention. Sixty-four participants (experimental group) attended a 60-minute Tai Chi exercise three times per week for 12 weeks, whereas 69 participants (control group) maintained their usual daily activities. Measures: Anxiety states, systolic blood pressure (SBP), diastolic blood pressure (DBP), body mass index (BMI), and waist circumference (WC) were assessed at baseline, 6 weeks into the experiment, and 12 weeks into the experiment. Analysis: Generalized estimating equations were used to evaluate the changes. Results: Participants showed a greater drop in anxiety levels (β = -2.57, p = .001) and DBP (β = -7.02, p < .001) at the 12-week follow-up than did the controls. SBP significantly decreased in the 6-week follow-up and 12-week follow-up tests. The participants in the intervention achieved a greater drop in BMI at the 6-week and 12-week follow-up visits than the controls. The interventions demonstrated decreased average WC at the 6-week and 12-week follow-up visits as compared to the controls. Conclusion: The results highlight the long-term benefits of a TCC program in facilitating health promotion by reducing anxiety and risk factors for cardiovascular diseases.
MeSH term(s)	Aged ; Anxiety/prevention & control ; Body Mass Index ; Cardiovascular Diseases/prevention & control ; Case-Control Studies ; Female ; Health Status Indicators ; Humans ; Male ; Middle Aged ; Risk Factors ; Risk Reduction Behavior ; Tai Ji ; Taiwan
Language	English
Publishing date	2013-09
Publishing country	United States
Document type	Evaluation Studies ; Journal Article
ZDB-ID	645160-3
ISSN	2168-6602 ; 0890-1171
ISSN (online)	2168-6602
ISSN	0890-1171
DOI	10.4278/ajhp.120720-QUAN-356
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Book: Doctor Mom Chung of the fair-haired bastards

Wu, Judy Tzu-Chun

the life of a wartime celebrity

2005

Author's details	Judy Tzu-Chun Wu
MeSH term(s)	Physicians, Women ; Asian Americans
Keywords	United States
Language	English
Size	282 p. :, ill. ;, 24 cm.
Publisher	University of California Press
Publishing place	Berkeley
Document type	Book
ISBN	0520241436 ; 9780520241435
Database	Catalogue of the US National Library of Medicine (NLM)

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Book: Chung-kuo lan hua

Wu, Yingxiang

Chinese cymbidium

1994

Title variant	Chinese cymbidium
Author's details	Wu Ying-hsiang pien chu
Keywords	Orchid culture ; Orchids
Language	Chinese
Size	2, 3, 158 p., [40] p. of plates :, ill. (some col.) ;, 19 x 22 cm.
Edition	Ti 2 pan.
Publisher	Chung-kuo lin yeh chʻu pan she ; Hsin hua shu tien Pei-ching fa hsing so fa hsing
Publishing place	Pei-ching
Document type	Book
Note	Summary in English; table of contents also in English.
ISBN	7503810718 ; 9787503810718
Database	NAL-Catalogue (AGRICOLA)

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Book: Chung-kuo lan hua

Wu, Yingxiang

Chinese cymbidium

1991

Title variant	Chinese cymbidium
Author's details	Wu Ying-hsiang
Keywords	Orchid culture
Language	Chinese
Size	2, 3, 141 p., [32] p. of plates :, ill. (some col.) ;, 19 x 22 cm.
Edition	Ti 1 pan.
Publisher	Chung-kuo lin yeh chʻu pan she ; Hsin hua shu tien Pei-ching fa hsing so fa hisng
Publishing place	Pei-ching
Document type	Book
Note	Added table of contents in English.
ISBN	7503806125 ; 9787503806124
Database	NAL-Catalogue (AGRICOLA)

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