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

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...

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Autores principales: Siu Xiao, Tania, Colombari Arce, Giuliana, Rojas Marron, Andreina, Benitez, Guadalupe A, Schwanecke, Rebecca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9869920/
https://www.ncbi.nlm.nih.gov/pubmed/36699804
http://dx.doi.org/10.7759/cureus.32902
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author Siu Xiao, Tania
Colombari Arce, Giuliana
Rojas Marron, Andreina
Benitez, Guadalupe A
Schwanecke, Rebecca
author_facet Siu Xiao, Tania
Colombari Arce, Giuliana
Rojas Marron, Andreina
Benitez, Guadalupe A
Schwanecke, Rebecca
author_sort Siu Xiao, Tania
collection PubMed
description 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.
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spelling pubmed-98699202023-01-24 Bainbridge-Ropers Syndrome in a Texan Boy: A Case Report and Review of the Literature Siu Xiao, Tania Colombari Arce, Giuliana Rojas Marron, Andreina Benitez, Guadalupe A Schwanecke, Rebecca Cureus Genetics 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. Cureus 2022-12-24 /pmc/articles/PMC9869920/ /pubmed/36699804 http://dx.doi.org/10.7759/cureus.32902 Text en Copyright © 2022, Siu Xiao et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Siu Xiao, Tania
Colombari Arce, Giuliana
Rojas Marron, Andreina
Benitez, Guadalupe A
Schwanecke, Rebecca
Bainbridge-Ropers Syndrome in a Texan Boy: A Case Report and Review of the Literature
title Bainbridge-Ropers Syndrome in a Texan Boy: A Case Report and Review of the Literature
title_full Bainbridge-Ropers Syndrome in a Texan Boy: A Case Report and Review of the Literature
title_fullStr Bainbridge-Ropers Syndrome in a Texan Boy: A Case Report and Review of the Literature
title_full_unstemmed Bainbridge-Ropers Syndrome in a Texan Boy: A Case Report and Review of the Literature
title_short Bainbridge-Ropers Syndrome in a Texan Boy: A Case Report and Review of the Literature
title_sort bainbridge-ropers syndrome in a texan boy: a case report and review of the literature
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9869920/
https://www.ncbi.nlm.nih.gov/pubmed/36699804
http://dx.doi.org/10.7759/cureus.32902
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