Identification of a novel variant of SRD5A2 gene in a child featuring steroid 5α-reductase type 2 deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1233-1236, 2021.
Artículo
en Chino
| WPRIM
| ID: wpr-922031
ABSTRACT
OBJECTIVE@#To explore the clinical characteristics and genetic basis of a child with 5α-reductase type 2 deficiency.@*METHODS@#Clinical data of the child was retrospectively analyzed. Targeted capture-next generation sequencing and Sanger sequencing were carried out to detect potential variants.@*RESULTS@#The patient's main features included micropenis and hypospadia. He was found to harbor compound heterozygous c.680G>A (p.R227Q) and c.3G>T (p.M1I) variants of the SRD5A2 gene. Among these, c.680G>A (p.R227Q) was inherited from his father and was a known pathogenic mutation, while c.3G>T (p.M1I) was inherited from his mother and was unreported previously.@*CONCLUSION@#The compound heterozygous variants of the SRD5A2 gene probably underlay the disease in this child, who was eventually diagnosed with 5α-reductase 2 deficiency.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Esteroides
/
3-Oxo-5-alfa-Esteroide 4-Deshidrogenasa
/
Estudios Retrospectivos
/
Errores Congénitos del Metabolismo Esteroideo
/
Trastorno del Desarrollo Sexual 46,XY
/
Hipospadias
/
Proteínas de la Membrana
/
Mutación
Tipo de estudio:
Estudio diagnóstico
/
Estudio observacional
/
Estudio pronóstico
Límite:
Niño
/
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2021
Tipo del documento:
Artículo
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