{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["2022"],"submitter":["Le PTQ"],"pubmed_abstract":["<i>SRD5A2</i> (steroid 5-alpha-reductase 2) mutation, which impairs 5<i>α</i>-reductase-2 enzyme activity, is among the causes of 46,XY disorders of sex development (DSD). Here, we report a rare pathogenic mutation NM_000348.4:c.485A>C (NP_000339.2:p.His162Pro) of <i>SRD5A2</i> gene in a compound heterozygous state first identified in a Vietnamese newborn with 5<i>α</i>-reductase-2 enzyme deficiency. We also first submitted this rare mutation to ClinVar database (VCV000973099.1). The patient presented with hyperpigmented labia-majora-like bifid scrotum, clitoris-like phallus, perineoscrotal hypospadias, and blind-ending vagina. The other mutation NM_000348.4:c.680G>A (NP_000339.2:p.Arg227Gln) was reported previously. This compound heterozygous mutation was first detected by next-generation sequencing. By Sanger sequencing, we confirmed that the c.485A>C mutation was maternal inherited, whereas the c.680G>A mutation was paternal inherited. Up to date, this is the first report of this rare compound heterozygous state of <i>SRD5A2</i> c.485A>C and c.680G>A mutations in patients with 46,XY DSD generally as well as in Vietnamese population particularly and is also the second report in the world carrying the pathogenic mutation NM_000348.4:c.485A>C (NP_000339.2:p.His162Pro). Our finding has enriched the understanding of the spectrum of <i>SRD5A2</i> variants and phenotypic correlation in Asian patients with 46,XY DSD."],"journal":["Case reports in endocrinology"],"pagination":["6025916"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8977313"],"repository":["biostudies-literature"],"pubmed_title":["An Extremely Rare <i>SRD5A2</i> Gene c.485A>C Mutation in a Compound Heterozygous Newborn with Disorders of Sex Development First Identified in Vietnam."],"pmcid":["PMC8977313"],"pubmed_authors":["Nguyen TTB","Ha TMT","Le PTQ","Nguyen MT","Le TNU"],"additional_accession":[]},"is_claimable":false,"name":"An Extremely Rare <i>SRD5A2</i> Gene c.485A>C Mutation in a Compound Heterozygous Newborn with Disorders of Sex Development First Identified in Vietnam.","description":"<i>SRD5A2</i> (steroid 5-alpha-reductase 2) mutation, which impairs 5<i>α</i>-reductase-2 enzyme activity, is among the causes of 46,XY disorders of sex development (DSD). Here, we report a rare pathogenic mutation NM_000348.4:c.485A>C (NP_000339.2:p.His162Pro) of <i>SRD5A2</i> gene in a compound heterozygous state first identified in a Vietnamese newborn with 5<i>α</i>-reductase-2 enzyme deficiency. We also first submitted this rare mutation to ClinVar database (VCV000973099.1). The patient presented with hyperpigmented labia-majora-like bifid scrotum, clitoris-like phallus, perineoscrotal hypospadias, and blind-ending vagina. The other mutation NM_000348.4:c.680G>A (NP_000339.2:p.Arg227Gln) was reported previously. This compound heterozygous mutation was first detected by next-generation sequencing. By Sanger sequencing, we confirmed that the c.485A>C mutation was maternal inherited, whereas the c.680G>A mutation was paternal inherited. Up to date, this is the first report of this rare compound heterozygous state of <i>SRD5A2</i> c.485A>C and c.680G>A mutations in patients with 46,XY DSD generally as well as in Vietnamese population particularly and is also the second report in the world carrying the pathogenic mutation NM_000348.4:c.485A>C (NP_000339.2:p.His162Pro). Our finding has enriched the understanding of the spectrum of <i>SRD5A2</i> variants and phenotypic correlation in Asian patients with 46,XY DSD.","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022","modification":"2025-06-01T01:11:54.63Z","creation":"2024-11-13T18:10:40.969Z"},"accession":"S-EPMC8977313","cross_references":{"pubmed":["35386187"],"doi":["10.1155/2022/6025916"]}}