A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome.

ABSTRACT:

Background

Cornelia de Lange syndrome (CdLS) is a rare and clinically variable syndrome characterized by growth impairment, multi-organ anomalies, and a typical set of facial dysmorphisms. Here we describe a 2-year-old female child harboring a novel de novo missense variant in HDAC8, whose phenotypical score, according to the recent consensus on CdLS clinical diagnostic criteria, allowed the diagnosis of a non-classic CdLS.

Methods

Clinical exome sequencing was performed on the trio, identifying a de novo heterozygous variant in HDAC8 (NM_018486; c. 356C>G p.Thr119Arg). Molecular modeling was performed to evaluate putative functional consequence of the HDAC8 protein.

Results

The variant HDAC8 c.356C>G is classified as pathogenic following the ACMG (American College of

SUBMITTER: Mio C 

PROVIDER: S-EPMC8457687 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature