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Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.

Birth defects research - 3 Apr 2018

Bacrot Séverine, Mechler Charlotte, Talhi Naima, Martin-Coignard Dominique, Roth Philippe, Michot Caroline, Ichkou Amale, Alibeu Olivier, Nitschke Patrick, Thomas Sophie, Vekemans Michel, Razavi Férechté, Boutaud Lucile, Attie-Bitach Tania

Abstract excerpt

BACKGROUND: Bainbridge-Ropers syndrome (BRPS) is a recently identified severe disorder characterized by failure to thrive, facial dysmorphism, and severe developmental delay, caused by de novo dominant loss of function mutation in the ASXL3 gene. CASE: We report here the first case of prenatal BRPS in a fetus presenting with arthrogryposis on ultrasound and for pontocerebellar hypoplasia type 1 (PCH1) following...

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Identifiers

PMID: 29316359
DOI: 10.1002/bdr2.1191

Genes

ASXL3

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Source receipt: pubmed, retrieved 7 Sept 2026.

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