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.
Article
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Steroids
/
3-Oxo-5-alpha-Steroid 4-Dehydrogenase
/
Retrospective Studies
/
Steroid Metabolism, Inborn Errors
/
Disorder of Sex Development, 46,XY
/
Hypospadias
/
Membrane Proteins
/
Mutation
Type of study:
Diagnostic study
/
Observational study
/
Prognostic study
Limits:
Child
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article
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