Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability

BMC Medical Genetics

Mei Shiyue¹  Chen Guohong²  Wang Yuan²  Yang Zhixiao²  Xu Kaili²  Mei Daoqi² 

[1] Department of Intensive Care Unit, Henan Provincial Key Laboratory of Children’s Genetics and Metabolic Diseases, Children’s Hospital Affiliated to Zhengzhou University, Zhengzhou Children’s Hospital;Department of of Eastern Neurology, Children’s Hospital Affiliated to Zhengzhou University, Zhengzhou Children’s Hospital;

关键词: X-linked syndromic mental retardation;    Intractable seizures;    CNKSR2 gene;    Exons deletion;   

DOI  :  10.1186/s12881-020-01004-2

来源: DOAJ

【 摘 要 】

Abstract Background The Houge type of X-linked syndromic mental retardation is an X-linked intellectual disability (XLID) recently recorded in the Online Mendelian Inheritance in Man (OMIM) and only 8 cases have been reported in literature thus far. Case presentation We present two brothers with intractable seizures and syndromic intellectual disability with symptoms consisting of delayed development, intellectual disability, and speech and language delay. The mother was a symptomatic carrier with milder clinical phenotype. Whole exome sequencing identified a small fragment deletion spanning four exons, about 9.5 kilobases (kb) in length in the CNKSR2 gene in the patients. The mutation co-segregation revealed that exon deletions occurred de novo in the proband’s mother. Conclusion Although large deletions have been reported, no small deletions have yet been identified. In this case report, we identified a small deletion in the CNKSR2 gene. This study enhances our knowledge of the CNKSR2 gene mutation spectrum and provides further information about the phenotypic characteristics of X-linked syndromic intellectual disability.

【 授权许可】

Unknown