Open AccessNovel mutation in the ASXL3 gene in a Chinese boy with microcephaly and speech impairment: A case report
Author(s) -
Jinrong Li,
Zhuo Huang,
You Lü,
Qiaoyun Ji,
Mingyan Jiang,
Fan Yang
Publication year - 2020
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v8.i24.6465
Subject(s) - microcephaly , medicine , mutation , gene , genetics , gene mutation , chinese family , pediatrics , audiology , biology
Bainbridge-Ropers syndrome (BRPS) is a severe disorder characterized by failure to thrive, facial dysmorphism, and severe developmental delay. BRPS is caused by a heterozygous loss-of-function mutation in the ASXL3 gene. Due to limited knowledge of the disease and lack of specific features, clinical diagnosis of this syndrome is challenging. With the use of trio-based whole exome sequencing, we identified a novel ASXL3 mutation in a Chinese boy with BRPS and performed a literature review.