Bainbridge-Ropers Syndrome in a Texan Boy: A Case Report and Review of the Literature.

ABSTRACT: Bainbridge-Ropers syndrome (BRPS) or additional sex combs-like 3 (ASXL3)-related disorder is a neurodevelopmental disorder caused by a de novo missense mutation in the ASXL3 gene found on chromosome 18. The number of BRPS cases recorded to date is less than 100. In this report, a six-year-old Texan boy with global developmental delay, aggressive behavior, insomnia, microcephaly, strabismus, facial dysmorphic features, vesicoureteral reflux (VUR), bilateral congenital renal dysplasia, gastroesophageal reflux disease (GERD), hypotonia, failure to thrive, dysphagia, and status post-gastrostomy tube was referred to Children's Health in Dallas for evaluation. The patient shares a chromosomal abnormality with his father that did not explain his clinical findings. Therefore, further tests were indicated and a whole-exome gene sequencing revealed a de novo pathogenic heterozygous mutation in the ASXL3 gene in chromosome 18q12.1 associated with autosomal dominant BRPS. To our knowledge, this is the first case of BRPS with bilateral congenital renal dysplasia and may be correlated to the presence of the ASXL3 gene in renal tissue. This discovery provides significant new information about this condition that might be essential for comprehending it.

SUBMITTER: Siu Xiao T 

PROVIDER: S-EPMC9869920 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature