Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports.

ABSTRACT:

Background

The molecular mutations of the L1CAM gene and the imaging appearances of four fetuses with L1 syndrome from three independent Chinese families with a history of hydrocephalus were reported in this study. Two of the three are novel L1CAM variants.

Methods

Results of clinical and imaging examinations of three Chinese families were collected. Fetal samples were collected by puncture, genomic DNA was extracted, whole-exome sequencing was performed, and the L1CAM gene mutation sites were verified by PCR and Sanger sequencing.

Results

In this case report, we described the imaging appearance and investigated the mutations of the L1CAM gene in three Chinese families with a history of L1 syndrome; these included two nonsense mutations (c.262C>T and c.261C>G) and one

SUBMITTER: Gao S 

PROVIDER: S-EPMC9482388 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature