Open AccessA new frameshift mutation in L1CAM producing X‐linked hydrocephalus
Author(s) -
Kong Weiqi,
Wang Xueyan,
Zhao Jing,
Kang Min,
Xi Na,
Li Shengmei
Publication year - 2020
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1031
Subject(s) - l1 , frameshift mutation , mutation , exon , hydrocephalus , medicine , genetics , exome sequencing , charge syndrome , biology , pathology , gene , surgery
Background X‐linked hydrocephalus (XLH), characterized by mental retardation and bilateral adducted thumbs, often come out to be a genetic disorder of L1CAM . It codes the protein L1 cell adhesion molecule (L1CAM), playing a crucial role in the development of the nervous system. The objective of the study was to report a new disease‐causing mutation site of L1CAM , and gain further insight into the pathophysiology of hydrocephalus. Methods We collect the samples of a couple and their second hydrocephalic fetus. Then, the whole‐exome sequencing and in‐depth mutation analysis were performed. Results The variant c.2491delG (p.V831fs), located in the exon 19 of L1CAM (chrX:153131214), could damage the L1CAM function by producing a frameshift in the translation of fibronectin type‐III of L1CAM. Conclusion We identified a novel disease‐causing mutation in L1CAM for the first time, which further confirmed L1CAM as a gene underlying XLH cases.