First Korean Case of Coffin-Siris Syndrome with a Novel Frameshift ARID1B Mutation.

First Korean Case of Coffin-Siris Syndrome with a Novel Frameshift ARID1B Mutation. Ann Clin Lab Sci. 2020 Jan;50(1):140-145 Authors: Lee BL, Oh SH, Jun KR, Hur YJ, Lee JE, Keum C, Chung WY Abstract Coffin-Siris Syndrome (CSS) is a rare neurodevelopmental disorder characterized by intellectual disability, coarse facial features, hypoplastic digits/nails, and hypertrichosis. The genes causative of CSS mainly encode the SWI/SNF complex, which contributes to chromatin remodeling and regulates the access of transcriptional factors to specific gene sites. While ARID1B mutations account for a third of all CSS cases, the condition's phenotypic features vary widely. We document the case of a girl with CSS who presented with a variant facial appearance, global developmental delay with speech impairment, agenesis of the corpus callosum, funnel chest, and bilateral renal stones without hypertrichosis or hypoplasia of the fifth fingernail. Genetic analysis revealed that the patient had a novel heterozygous frameshift mutation c.2201dupG (p.Ser736Ilefs*27) on the ARID1B gene. PMID: 32161024 [PubMed - in process]
Source: Annals of Clinical and Laboratory Science - Category: Laboratory Medicine Authors: Tags: Ann Clin Lab Sci Source Type: research