Genetic analysis of a case of chromosome 14q microdeletion

VernacularTitle:一个染色体14q微缺失的遗传学分析
Author: Jie ZHANG ¹ ; Wangming XU ; Juan GUI ; Xiaodong HUANG
Author Information

1. 武汉大学人民医院生殖医学中心 430060
Keywords: Single nucleotide polymorphism array; Autism; Mental retardation; Epilepsy
From: Chinese Journal of Medical Genetics 2020;37(2):178-181
CountryChina
Language:Chinese
Abstract: Objective To explore the genetic etiology of a child with autism,mental retardation and epilepsy.Methods Conventional G-banding chromosomal analysis was carried out.Chromosomal variation was also detected by single nucleotide polymorphism microarray (SNP array).Pathogenic mutations were screened by high-throughput sequencing and validated by Sanger sequencing.Pathologic significance of the candidate mutations was analyzed through search of database and literature review.Results No karyotypic abnormality was found with the child and his parents,while SNP array has detected a 460 kb deletion in the 14q11.2 region in the child.High-throughput and Sanger sequencing revealed a novel mutation of the NALCN gene in the child,in addition with a hemizygous mutation of the COL4A5 gene in the child and his mother.Conclusion The 14q11.2 microdeletion and NALCN mutation may contribute to the autism,mental retardation and epilepsy in this child.