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.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-922031
Biblioteca responsável:
WPRO
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:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Esteroides
/
3-Oxo-5-alfa-Esteroide 4-Desidrogenase
/
Estudos Retrospectivos
/
Erros Inatos do Metabolismo de Esteroides
/
Transtorno 46,XY do Desenvolvimento Sexual
/
Hipospadia
/
Proteínas de Membrana
/
Mutação
Tipo de estudo:
Estudo diagnóstico
/
Estudo observacional
/
Estudo prognóstico
Limite:
Criança
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Artigo