A novel ASXL3 gene variant in a Chinese Boy causing Bainbridge

Area of Science:

• Genetics
• Rare Diseases
• Molecular Biology

Background:

• Bainbridge-Ropers syndrome (BRPS) is a rare genetic disorder.
• It is characterized by developmental delay, intellectual disability, distinctive facial features, and congenital anomalies.
• Mutations in the Additional Sex Combs Like 3 (ASXL3) gene are primarily responsible for BRPS.

Purpose of the Study:

• To investigate the clinical phenotype, imaging, and genetic characteristics of BRPS.
• To enhance the understanding of BRPS and its genetic factors.
• To report a novel case of ASXL3 gene mutation associated with BRPS.

Main Methods:

• Employed Next-Generation Sequencing (NGS) techniques for genetic analysis.
• Conducted whole exome sequencing (WES) on an infant male with symptoms suggestive of BRPS.
• Classified the identified ASXL3 gene variant as pathogenic according to ACMG guidelines.

Main Results:

• Identified a de novo heterozygous ASXL3 gene variant (c.1409_1411delinsTT; p. His470Leufs*14) in an infant male.
• The variant, a frameshift mutation in exon 11, led to the diagnosis of BRPS.
• This specific ASXL3 variant has not been previously reported in the literature.

Conclusions:

• This study presents a novel case of an ASXL3 gene variant causing BRPS.
• Highlights the importance of genetic analysis in diagnosing complex clinical presentations.
• Emphasizes the need for further research into the genetic basis of rare diseases.