%0 Case Reports
%T [Genetic analysis of a case of chromosome 14q microdeletion].
%A Zhang J
%A Xu W
%A Gui J
%A Huang X
%J Zhonghua Yi Xue Yi Chuan Xue Za Zhi
%V 37
%N 2
%D Feb 2020 10
%M 32034750
暂无%R 10.3760/cma.j.issn.1003-9406.2020.02.020
%X <B>OBJECTIVE: </B>To explore the genetic etiology of a child with autism, mental retardation and epilepsy.<BR><B>METHODS: </B>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.<BR><B>RESULTS: </B>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.<BR><B>CONCLUSIONS: </B>The 14q11.2 microdeletion and NALCN mutation may contribute to the autism, mental retardation and epilepsy in this child.