Open AccessNovel <b><i>SNX13</i></b> Frameshift Variant in an Individual with Developmental Delay
Author(s) -
Xicheng Tao,
Yue-Ping Che,
Chenxi Li,
Wencong Ruan,
Jialu Xu,
Yu Yang,
Fan Yang,
Jia Wang,
Haifeng Li
Publication year - 2021
Publication title -
cytogenetic and genome research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.571
H-Index - 88
ISSN - 1424-8581
DOI - 10.1159/000520296
Subject(s) - frameshift mutation , biology , sanger sequencing , exome sequencing , genetics , global developmental delay , gene , mutation , phenotype
Recently, an increasing number of genes have been associated with global developmental delay (GDD) and intellectual disability (ID). The sorting nexin (SNX) protein family plays multiple roles in protein trafficking and intracellular signaling. SNXs have been reported to be associated with several disorders, including Alzheimer disease and Down syndrome. Despite the growing evidence of an association of SNXs with neurodegeneration, SNX13 deficiency has not been associated with GDD or ID. In this study, we present the case of a 4-year-old boy with brain dysplasia and GDD, including language delay, cognitive delay, and dyskinesia. Exome sequencing revealed a 1-bp homozygous deletion in SNX13 (NM_015132.5: exon8: c.742_743del; p.Tyr248Leufs*20), which caused a frameshift and predicted early termination. Sanger sequencing confirmed that the variant was inherited from his parents respectively. Our findings associate SNX13 variation with GDD for the first time and provide a new GDD candidate gene.