Variant analysis on steroid 5-reductase type 2 deficiency caused by a novel SRD5A2 mutation / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 790-795, 2020.
Artículo
en Chino
| WPRIM
| ID: wpr-828665
ABSTRACT
This article reported the clinical characteristics and SRD5A2 gene mutation pattern of a child with steroid 5-α reductase type 2 deficiency. The 2-month-old boy showed hypospadias and short penis shortly after birth. DNA was extracted from the peripheral blood of the child and his parents. The endocrine disease-related genes were captured and sequenced by high-throughput sequencing technology, and the family DNA samples were verified by Sanger sequencing. The results showed that c.680G>A(p.R227Q) and c.608G>A(p.G203D) compound heterozygous mutations existed in the SRD5A2 gene of the child. The c.680G>A mutation inherited from his father, which was a known pathogenic mutation. The c.608G>A mutation originated from his mother, which was a novel mutation discovered in this study. These results provide molecular evidence for the etiological diagnosis of the child and genetic counseling for the family, as well as extend the mutation spectrum of SRD5A2 gene.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
3-Oxo-5-alfa-Esteroide 4-Deshidrogenasa
/
Secuencia de Bases
/
Genética
/
Hipospadias
/
Proteínas de la Membrana
/
Mutación
Límite:
Niño
/
Femenino
/
Humanos
/
Lactante
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Contemporary Pediatrics
Año:
2020
Tipo del documento:
Artículo
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