A novel ASXL3 gene variant in a Chinese Boy causing Bainbridge.

ABSTRACT:

Background

Bainbridge-Ropers syndrome (BRPS) is an uncommon genetic disorder characterized by developmental delay, intellectual disability, distinctive facial features, and various congenital anomalies primarily attributed to mutations in the Additional Sex Combs Like 3 (ASXL3) gene. In this case report, we employed Next-Generation Sequencing techniques for genetic analysis to investigate the clinical phenotype, imaging manifestations, and genetic characteristics of BPRS syndrome caused by ASXL3 gene mutation to enhance our understanding of BPRS and its underlying genetic factors.

Case presentation

This study presents a case of an infant male, aged 4 months and 6 days, who was referred to our hospital with symptoms including fever, cough, and wheezing. The patient had a hist

SUBMITTER: Dai B 

PROVIDER: S-EPMC12557953 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature