A novel splicing variation in L1CAM is responsible for recurrent fetal hydrocephalus.

ABSTRACT:

Background

The L1 cell adhesion molecule (L1CAM, OMIM 308840) gene is primarily expressed in the nervous system and encodes the L1 adhesion molecule protein. Variations in L1CAM cause a wide spectrum of X-linked neurological disorders summarized as the L1 syndrome.

Methods

We report a 29-year-old pregnant woman who experienced multiple adverse pregnancy outcomes due to recurrent fetal hydrocephalus with an X-linked recessive inheritance. Genomic DNA was extracted from the third aborted male fetus and analyzed via trio whole-exome sequencing (WES). Total RNA was isolated from the pregnant woman to assess splicing variation at the mRNA level, and amniotic fluid was extracted from the woman for prenatal diagnosis on her fourth fetus.

Results

All four male fetuses were af

SUBMITTER: He T 

PROVIDER: S-EPMC10655515 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature