Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.
Birth Defects Res
; 110(6): 538-542, 2018 04 03.
Article
em En
| MEDLINE
| ID: mdl-29316359
ABSTRACT
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 neuropathological examination. The diagnosis was done by whole exome sequencing that identified a novel de novo ASXL3 mutation. We review 29 previous published cases.DISCUSSION:
The fetopathological examination allowed to extend the phenotype to central nervous system and the genetic study highlights ASXL3 as a dominant gene responsible for PCH1 phenotype. Recognizing heterozygous ASXL3 mutation as a cause of prenatal PCH1 is essential for both large scale molecular analysis in the NGS era and genetic counseling.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Atrofias Olivopontocerebelares
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Feto
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Sequenciamento do Exoma
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Adult
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Humans
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article