Case Report: A novel intronic variant of <i>NIPBL</i> gene detected in a child with cornelia de lange syndrome.

ABSTRACT:

Background

Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder involving multi-system organs, causing physical and mental congenital malformation. Nipped-B-like protein (NIPBL) variants are associated with various CdLS phenotypes. Newborns with typical clinical manifestations (intellectual disability, special appearances, and limb malformation) require a diagnosis. However, diagnosing CdLS is challenging on account of its heterogeneity of genotype and phenotype.

Methods

In this study, molecular analysis was applied, containing whole exome sequencing (WES), reverse transcriptase PCR (RT-PCR), and minigene splicing assays.

Results

We identified a novel splice-donor variant (NIPBL c.6343 + 1G>A) by WES. RT-PCR and minigene splicing ass

SUBMITTER: Shao XT 

PROVIDER: S-EPMC12457154 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature