A novel mutation in steroidogenic factor (SF1/NR5A1) gene in a patient with 46 XY DSD without adrenal insufficiency.
Andrologia
; 49(1)2017 Feb.
Article
en En
| MEDLINE
| ID: mdl-27135758
ABSTRACT
Steroidogenic factor-1 (SF-1), also known as nuclear receptor subfamily 5 group A member 1 (NR5A1), is a member of orphan receptor subfamily and located on chromosome 9 (9q33). In 46, XY individuals with mutation of SF-1 gene, adrenal failure, testis dysgenesis, androgen synthesis defects, hypospadias and anorchia with microphallus, infertility can occur from severe to mild. We report a case of a 20-day-old male who is admitted to our clinic due to ambiguous genitalia. In this report, we describe a novel heterozygous c.814A > C (p. T272P) NR5A1 mutation in a patient with 46, XY DSD without adrenal insufficiency. We describe a novel missense mutation c.814A > C (p. T272P) in NR5A1 gene which had not previously been reported. Also this report highlights that the potential diagnostic utility of next-generation sequencing is an effective strategy versus Sanger sequencing to identify genetic mosaicism in clinical practice.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Predisposición Genética a la Enfermedad
/
Mutación Missense
/
Trastorno del Desarrollo Sexual 46,XY
/
Factores de Empalme de ARN
/
Hipospadias
Tipo de estudio:
Prognostic_studies
Límite:
Humans
/
Male
/
Newborn
Idioma:
En
Año:
2017
Tipo del documento:
Article