Identification of a novel variant of SRD5A2 gene in a child featuring steroid 5α-reductase type 2 deficiency.
10.3760/cma.j.cn511374-20201224-00906
- VernacularTitle:一例
SRD5A2基因新变异致5α-还原酶2型缺乏症患儿的临床及遗传学分析
- Author:
Mali LI
1
,
2
;
Fengyu CHE
;
Shichao QIU
;
Zhihua WANG
Author Information
1. Department of Endocrinology, Genetics and Metabolism, Xi'an Children's Hospital, Shaanxi 710002, China. xasetyy@
2. com.
- Publication Type:Journal Article
- MeSH:
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics*;
Child;
Disorder of Sex Development, 46,XY;
Female;
Humans;
Hypospadias;
Male;
Membrane Proteins/genetics*;
Mutation;
Retrospective Studies;
Steroid Metabolism, Inborn Errors;
Steroids
- From:
Chinese Journal of Medical Genetics
2021;38(12):1233-1236
- CountryChina
- Language:Chinese
-
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.
