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A novel frameshift variant in SON causes Zhu‐Tokita‐Takenouchi‐Kim Syndrome

BACKGROUND: Zhu‐Tokita‐Takenouchi‐Kim syndrome is a severe multisystem developmental disorder characterized by intellectual disability, developmental delay, malformations of the cerebral cortex, epilepsy, vision problems, musculoskeletal abnormalities, and congenital malformations. This syndrome is...

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Autores principales: Tan, Ya, Duan, Ling, Yang, Kai, Liu, Qian, Wang, Jing, Dong, Zhe, Li, Zhi, He, Yiwen, Yan, Yousheng, Lin, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7439338/
https://www.ncbi.nlm.nih.gov/pubmed/32291808
http://dx.doi.org/10.1002/jcla.23326
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author Tan, Ya
Duan, Ling
Yang, Kai
Liu, Qian
Wang, Jing
Dong, Zhe
Li, Zhi
He, Yiwen
Yan, Yousheng
Lin, Li
author_facet Tan, Ya
Duan, Ling
Yang, Kai
Liu, Qian
Wang, Jing
Dong, Zhe
Li, Zhi
He, Yiwen
Yan, Yousheng
Lin, Li
author_sort Tan, Ya
collection PubMed
description BACKGROUND: Zhu‐Tokita‐Takenouchi‐Kim syndrome is a severe multisystem developmental disorder characterized by intellectual disability, developmental delay, malformations of the cerebral cortex, epilepsy, vision problems, musculoskeletal abnormalities, and congenital malformations. This syndrome is caused by heterozygous pathogenic variants in the SON gene at chromosome 21q22.1. OBJECTIVES: The aim of this study was to investigate the pathogenesis of a 4‐year‐old Chinese child who displayed severe intellectual disability, delayed psychomotor development, and facial dysmorphism. METHODS: A sequential detection including chromosome karyotyping, chromosome microarray analysis (CMA), and whole‐exome sequencing (WES) was performed on this child. The familial verification of WES result was conducted by Sanger sequencing. RESULTS: A de novo frameshift variant SON: c.5230delC (p.Arg1744ValfsTer29) was identified in the proband. The identical variant was not found in his family members. The frequencies of this variant in gnomAD/gnomAD_EAS databases were both none. CONCLUSIONS: This study substantiates that SON: c.5230delC (p.Arg1744ValfsTer29) is a pathogenic variant of Zhu‐Tokita‐Takenouchi‐Kim syndrome and it is the first time to report Zhu‐Tokita‐Takenouchi‐Kim syndrome in China.
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spelling pubmed-74393382020-08-21 A novel frameshift variant in SON causes Zhu‐Tokita‐Takenouchi‐Kim Syndrome Tan, Ya Duan, Ling Yang, Kai Liu, Qian Wang, Jing Dong, Zhe Li, Zhi He, Yiwen Yan, Yousheng Lin, Li J Clin Lab Anal Research Articles BACKGROUND: Zhu‐Tokita‐Takenouchi‐Kim syndrome is a severe multisystem developmental disorder characterized by intellectual disability, developmental delay, malformations of the cerebral cortex, epilepsy, vision problems, musculoskeletal abnormalities, and congenital malformations. This syndrome is caused by heterozygous pathogenic variants in the SON gene at chromosome 21q22.1. OBJECTIVES: The aim of this study was to investigate the pathogenesis of a 4‐year‐old Chinese child who displayed severe intellectual disability, delayed psychomotor development, and facial dysmorphism. METHODS: A sequential detection including chromosome karyotyping, chromosome microarray analysis (CMA), and whole‐exome sequencing (WES) was performed on this child. The familial verification of WES result was conducted by Sanger sequencing. RESULTS: A de novo frameshift variant SON: c.5230delC (p.Arg1744ValfsTer29) was identified in the proband. The identical variant was not found in his family members. The frequencies of this variant in gnomAD/gnomAD_EAS databases were both none. CONCLUSIONS: This study substantiates that SON: c.5230delC (p.Arg1744ValfsTer29) is a pathogenic variant of Zhu‐Tokita‐Takenouchi‐Kim syndrome and it is the first time to report Zhu‐Tokita‐Takenouchi‐Kim syndrome in China. John Wiley and Sons Inc. 2020-04-14 /pmc/articles/PMC7439338/ /pubmed/32291808 http://dx.doi.org/10.1002/jcla.23326 Text en © 2020 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Research Articles
Tan, Ya
Duan, Ling
Yang, Kai
Liu, Qian
Wang, Jing
Dong, Zhe
Li, Zhi
He, Yiwen
Yan, Yousheng
Lin, Li
A novel frameshift variant in SON causes Zhu‐Tokita‐Takenouchi‐Kim Syndrome
title A novel frameshift variant in SON causes Zhu‐Tokita‐Takenouchi‐Kim Syndrome
title_full A novel frameshift variant in SON causes Zhu‐Tokita‐Takenouchi‐Kim Syndrome
title_fullStr A novel frameshift variant in SON causes Zhu‐Tokita‐Takenouchi‐Kim Syndrome
title_full_unstemmed A novel frameshift variant in SON causes Zhu‐Tokita‐Takenouchi‐Kim Syndrome
title_short A novel frameshift variant in SON causes Zhu‐Tokita‐Takenouchi‐Kim Syndrome
title_sort novel frameshift variant in son causes zhu‐tokita‐takenouchi‐kim syndrome
topic Research Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7439338/
https://www.ncbi.nlm.nih.gov/pubmed/32291808
http://dx.doi.org/10.1002/jcla.23326
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