The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in ACTB Diagnosed Via Targeted Gene Panel Sequencing and Literature Review.

We report a two-year-old girl who had distinctive facial features, including hypertelorism, arched eyebrows, bilateral ptosis, short broad nose with a flat nasal tip, long philtrum, retrognathia, low-set ears, and a thin upper lip. In addition, she also exhibited short stature, pectus excavatum, developmental delay, brain malformation, and hearing loss. Targeted gene panel sequencing identified a de novo heterozygous missense variant c.826G>A (p.Glu276Lys) in ACTB This is the first Korean case of BWCFF with a novel mutation in ACTB. PMID: 33334799 [PubMed - in process]

https://www.ncbi.nlm.nih.gov/pubmed/33334799?dopt=Abstract

Source: Annals of Clinical and Laboratory Science - November 1, 2020 Category: Laboratory Medicine Authors: Choi GJ, Kim MS, Park H, Kim JY, Choi JM, Lee SM, Jang JH, Cho SY, Jin DK Tags: Ann Clin Lab Sci Source Type: research