A new frameshift mutation in L1CAM producing X-linked hydrocephalus.

ABSTRACT:

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 fibronecti

SUBMITTER: Kong W 

PROVIDER: S-EPMC6978236 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature