Case report : a novel ASXL3 gene variant in a Sudanese boy.

ABSTRACT:

Background

Bainbridge-Ropers syndrome (BRPS) [OMIM#615485] is a neurodevelopmental disorder, characterized by delayed psychomotor development with generalized hypotonia, moderate to severe intellectual disability, poor or absent speech, feeding difficulties, growth failure, dysmorphic craniofacial features and minor skeletal features. The aim of this study was to investigate the genetic etiology of a Sudanese boy with severe developmental delay, intellectual disability, and craniofacial phenotype using trio-based whole-exome sequencing. To our knowledge, no patients with ASXL3 gene variant c.3043C>T have been reported detailedly in literature.

Case presentation

The patient (male, 3 years 6 months) was the first born of a healthy non-consanguineous couple originating from Sud

SUBMITTER: Wu K 

PROVIDER: S-EPMC8655995 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature