Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report.

ABSTRACT:

Background

Bainbridge-Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in the Additional sex combs-like 3 (ASXL3) gene. Only four cases have been reported in China and are limited to the analysis of its clinical abnormalities, medical imaging features and gene variation. The aim of this study was to investigate the clinical phenotype, imaging manifestations and genetic characteristics of BPRS syndrome caused by ASXL3 gene mutation. Clinical data, medical imaging data and gene test results of BRPS in infant patients were retrospectively analyzed, and related literature was summarized.

Case presentation

At the age of 8 months, brain MRI showed that the subarachnoid space of the forehead was widened, part of the sulci

SUBMITTER: Yang L 

PROVIDER: S-EPMC7282141 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature