Case Report: Two Novel L1CAM Mutations in Two Unrelated Chinese Families With X-Linked Hydrocephalus.

ABSTRACT: L1 cell adhesion molecule is a type I transmembrane glycoprotein belonging to the immunoglobulin superfamily. Pathogenic mutations of L1CAM can cause L1 syndrome, referred to as a variety of disease spectrums characterized by hydrocephalus. In the present study, we reported two novel variants of L1CAM in two unrelated Chinese families with fetal hydrocephalus history. The woman of family 1, with three consecutive adverse birth histories of male fetuses with hydrocephalus, was identified by an exome sequence with a heterozygous mutation in the L1CAM gene, NM_000425.4: c.1696_1703 + 14del (p. S566Vfs*35), which was predicted to be pathogenic. It is predicted to disrupt RNA splicing and likely leads to an absent or disrupted protein product. In family 2, the mother, previ

SUBMITTER: Zhou H 

PROVIDER: S-EPMC9099044 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature