A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing

Molecular Genetics & Genomic Medicine

卷:7

Jianxin Tan¹  Ping Hu¹  Fengchang Qiao¹  Chunyu Luo¹  Yan Wang¹  Chen Wang¹  Zhengfeng Xu¹  Binbin Shao¹ 

[1] Department of Prenatal Diagnosis Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health care Hospital Nanjing China;

关键词: BCL11B;    developmental delay;    intellectual disability;    neurodevelopment;    whole exome sequencing;   

DOI  :  10.1002/mgg3.897

来源: DOAJ

【 摘 要 】

Abstract Background Next‐generation sequencing has been invaluable to delineate the genetic etiology of neurodevelopmental disorders (NDDs) in recent years. BCL11B, encoding Cys2His2 zinc finger transcription factor, is essential for the development of immune and neural systems. Methods Herein, we describe a Chinese girl presenting craniofacial abnormalities, developmental delay and intellectual disability with speech impairment. Exomes of genes were enriched with the Agilent SureSelect QXT ALL Human Exon V6 kit and sequenced on Illumina Hiseq 2500 platform. Results After variants filtering and annotation, we identified a de novo heterozygous 11bp frameshift mutation NM_138576.4: c.2190_2200delGGACGCACGAC (p.Thr730Thrfs*151) in exon 4 of BCL11B, which is expected to escape nonsense‐mediated mRNA decay and probably result in a truncated protein with lack of the C‐terminal DNA‐binding zinc‐finger domains. Conclusion This is the first report of NDD caused by a BCL11B variant in a Chinese population. The mutation identified in this report broadens the knowledge of mutation spectrum of BCL11B and might help in genetic counseling and reducing reproductive risk.

【 授权许可】

Unknown