Novel genotypes and phenotypes in Snijders Blok-Campeau syndrome caused by CHD3 mutations.

ABSTRACT:

Background

Snijders Blok-Campeau syndrome (SNIBCPS) is a rare genetic disorder characterized by facial abnormalities, hypotonia, macrocephaly, and global developmental delay (GDD) caused by mutations in CHD3 gene. There is limited information on SNIBCPS and few studies on its pathogenic gene CHD3.

Methods

We utilized whole-exome sequencing, in vitro minigene splicing assay analysis, and construction of protein models to validate the suspected pathogenic mutation. In addition, the PubMed database was searched using the keywords "Snijders Blok-Campeau syndrome," "CHD3," or "SNIBCPS" to summarize the gene mutations and clinical phenotypic characteristics of children with SNIBCPS.

Results

We identified a non-frameshift variant c.3592_c.3606delG

SUBMITTER: Gao Y 

PROVIDER: S-EPMC11266126 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature