A new frameshift mutation in L1CAM producing X‐linked hydrocephalus

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.