{Reference Type}: Case Reports
{Title}: [Genetic analysis of a case of chromosome 14q microdeletion].
{Author}: Zhang J;Xu W;Gui J;Huang X;
{Journal}: Zhonghua Yi Xue Yi Chuan Xue Za Zhi
{Volume}: 37
{Issue}: 2
{Year}: Feb 2020 10
暂无{DOI}: 10.3760/cma.j.issn.1003-9406.2020.02.020
{Abstract}: <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.