A new case of Bainbridge-Ropers syndrome (BRPS): delineating the phenotype and review of literature

Faroug Ababneh; Marwan Nashabat; Majid Alfadhel

doi:10.24911/JBCGenetics/183-1532439299

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Online Published: 01 Jan 2019

JBCGenetics. 2019; 2(1): 65-69

doi: 10.24911/JBCGenetics/183-1532439299

A new case of Bainbridge-Ropers syndrome (BRPS): delineating the phenotype and review of literature

Faroug Ababneh, Marwan Nashabat, Majid Alfadhel.

Cited By: 1

Abstract
Background: Bainbridge-Ropers syndrome (BRPS) is characterized by failure to thrive, global developmental delay, feeding problems, hypotonia, profound speech delays, and intellectual disability and dysmorphic features. It is an autosomal dominant condition caused by heterozygous mutations in the ASXL3 gene (OMIM #615115) on chromosome 18q12. As per the literature available, only 39 cases including the current patient were reported with BRPS across the globe.
Case presentation: A 4-year-old girl with confirmed BRPS. She had the characteristic features of the disease including psychomotor delay, hypotonia, profound speech impairment, neonatal feeding difficulties, postnatal, and dysmorphic features. The array CGH and whole exome sequencing were negative, but the whole genome sequencing detected a novel heterozygous de novo insertion in the ASXL3 gene c.3592_3593insGAT; p.Leu1198X.
Conclusion: With the advent of whole exome/genome sequencing we would expect to diagnose more cases of BRPS from different ethnic populations. Further clinical and functional studies are needed to delineate the long-term course of the disease and to elaborate on the exact role of the ASXL3 gene in brain development.

Key words: Bainbridge-Robers syndrome, ASXL3 gene, psychomotor delay, hypotonia, dysmorphic features

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Pubmed Style

Ababneh F, Nashabat M, Alfadhel M. A new case of Bainbridge-Ropers syndrome (BRPS): delineating the phenotype and review of literature. JBCGenetics. 2019; 2(1): 65-69. doi:10.24911/JBCGenetics/183-1532439299

Web Style

Ababneh F, Nashabat M, Alfadhel M. A new case of Bainbridge-Ropers syndrome (BRPS): delineating the phenotype and review of literature. https://www.jbcgenetics.com/?mno=1491 [Access: November 14, 2024]. doi:10.24911/JBCGenetics/183-1532439299

AMA (American Medical Association) Style

Ababneh F, Nashabat M, Alfadhel M. A new case of Bainbridge-Ropers syndrome (BRPS): delineating the phenotype and review of literature. JBCGenetics. 2019; 2(1): 65-69. doi:10.24911/JBCGenetics/183-1532439299

Vancouver/ICMJE Style

Ababneh F, Nashabat M, Alfadhel M. A new case of Bainbridge-Ropers syndrome (BRPS): delineating the phenotype and review of literature. JBCGenetics. (2019), [cited November 14, 2024]; 2(1): 65-69. doi:10.24911/JBCGenetics/183-1532439299

Harvard Style

Ababneh, F., Nashabat, . M. & Alfadhel, . M. (2019) A new case of Bainbridge-Ropers syndrome (BRPS): delineating the phenotype and review of literature. JBCGenetics, 2 (1), 65-69. doi:10.24911/JBCGenetics/183-1532439299

Turabian Style

Ababneh, Faroug, Marwan Nashabat, and Majid Alfadhel. 2019. A new case of Bainbridge-Ropers syndrome (BRPS): delineating the phenotype and review of literature. Journal of Biochemical and Clinical Genetics, 2 (1), 65-69. doi:10.24911/JBCGenetics/183-1532439299

Chicago Style

Ababneh, Faroug, Marwan Nashabat, and Majid Alfadhel. "A new case of Bainbridge-Ropers syndrome (BRPS): delineating the phenotype and review of literature." Journal of Biochemical and Clinical Genetics 2 (2019), 65-69. doi:10.24911/JBCGenetics/183-1532439299

MLA (The Modern Language Association) Style

Ababneh, Faroug, Marwan Nashabat, and Majid Alfadhel. "A new case of Bainbridge-Ropers syndrome (BRPS): delineating the phenotype and review of literature." Journal of Biochemical and Clinical Genetics 2.1 (2019), 65-69. Print. doi:10.24911/JBCGenetics/183-1532439299

APA (American Psychological Association) Style

Ababneh, F., Nashabat, . M. & Alfadhel, . M. (2019) A new case of Bainbridge-Ropers syndrome (BRPS): delineating the phenotype and review of literature. Journal of Biochemical and Clinical Genetics, 2 (1), 65-69. doi:10.24911/JBCGenetics/183-1532439299

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