Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias.
Sex Dev
; 11(5-6): 293-297, 2017.
Article
en En
| MEDLINE
| ID: mdl-29332064
ABSTRACT
A heterozygous intragenic duplication within the repeated area (CTGCAGCTG)×2 of the NR5A1 gene was found in a 15-year-old 46,XY DSD (disorders/differences of sex development) patient with micropenis and severe proximal hypospadias. This heterozygous duplication has already been described twice in boys with a similar phenotype, whereas a deletion of 3 amino acids at the same position in the protein SF-1 has been described in a 46,XX patient with primary ovarian failure and short stature. These data suggest that this region within the NR5A1 gene has an important role for SF-1 protein function in gonads and is a hotspot for intragenic rearrangements.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Factor Esteroidogénico 1
/
Trastorno del Desarrollo Sexual 46,XY
/
Hipospadias
Límite:
Adolescent
/
Humans
/
Male
Idioma:
En
Revista:
Sex Dev
Asunto de la revista:
CIENCIAS DO COMPORTAMENTO
Año:
2017
Tipo del documento:
Article
País de afiliación:
Francia