Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis.
Sex Dev
; 10(3): 147-51, 2016.
Article
em En
| MEDLINE
| ID: mdl-27169744
ABSTRACT
The phenotypic spectrum of patients carrying NR5A1 mutations ranges from 46,XY gonadal dysgenesis to male infertility. Phenotypic variability could be due to digenic or oligogenic inheritance of pathogenic variants in other testis-determining genes. Here, exome sequencing identified 2 pathogenic de novo NR5A1 mutations in 2 patients with 46,XY gonadal dysgenesis, p.Q206Tfs*20 and p.Arg313Cys. The latter patient also carried a missense mutation in MAP3K1. Our data extend the number of NR5A1 gene mutations associated with gonadal dysgenesis. The combination of an NR5A1 mutation with a MAP3K1 variant may explain the phenotypic variability associated with NR5A1 mutations.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Fator Esteroidogênico 1
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Disgenesia Gonadal 46 XY
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Mutação
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Adult
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Child, preschool
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Female
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Humans
Idioma:
En
Revista:
Sex Dev
Assunto da revista:
CIENCIAS DO COMPORTAMENTO
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Egito