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Abstract

October - December 2022 | Vol. 15 | Issue 4 | 02-04
First Report of Bainbridge-Ropers Syndrome in an Indian Individual
Shreya Chauhan1, Veronica Arora2, Samarth Kulshrestha2, Praveen Suman3, Imran Mushtaq3, Praveen Kumar4
1 Department of Pediatrics , Sir Ganga Ram Hospital, New Delhi 2 Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi 3 Child Development Clinic, Institute of Child Health Sir Ganga Ram Hospital, New Delhi 4 Pediatric Neurology, Institute of Child Health, Sir Ganga Ram Hospital, New Delhi
Address for Correspondence Email: veronicaarora@gmail.com
 
Abstract
Bainbridge-Ropers syndrome (BRS; OMIM #615485), a rare syndromic entity is caused by heterozygous de novo pathogenic variants in the ASXL3 gene (Additional sex-combs like 3). First described by Bainbridge et al, fewer than 50 cases have been reported so far worldwide, and none from India. The clinical features have a significant phenotypic overlap with Bohring- Opitz syndrome (OMIM *612990, BOS). We describe the first case of Bainbridge-Ropers syndrome from India with a four base-pair heterozygous duplication; NM_030632.12:c.3746_3749dup (p.Lys1250AsnfsTer2) in ASXL3 resulting in a frameshift and premature truncation of the protein two amino-acids downstream. We also propose the potential role of the gene of interest in cardiac development.
 
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