New Frameshift Mutation In The 5alpha-reductase Type 2 Gene In A Brazilian Patient With 5alpha-reductase Deficiency.

dc.creatorFerraz, L F
dc.creatorMathias Baptista, M T
dc.creatorMaciel-Guerra, A T
dc.creatorJúnior, G G
dc.creatorHackel, C
dc.date1999-Nov
dc.date2015-11-27T12:19:44Z
dc.date2015-11-27T12:19:44Z
dc.date.accessioned2018-03-29T00:53:50Z
dc.date.available2018-03-29T00:53:50Z
dc.identifierAmerican Journal Of Medical Genetics. v. 87, n. 3, p. 221-5, 1999-Nov.
dc.identifier0148-7299
dc.identifier
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/10564874
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/194447
dc.identifier10564874
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1294680
dc.descriptionMale pseudohermaphroditism caused by steroid 5alpha-reductase deficiency is an autosomal recessive disorder. The enzyme steroid 5alpha-reductase 2 (encoded by the SRD5A2 gene) catalyses the conversion of testosterone to dihydrotestosterone, which is required for normal differentiation of the external male genitalia. This report describes the molecular analysis of the 5alpha-reductase type 2 gene in a Brazilian patient who was raised as a female, underwent a reversal of gender role behavior, and is now a married man. This patient is a compound heterozygote bearing an A-->G mutation within exon 2, changing codon 126 from Glu to Arg on one allele and a novel single base deletion (418delT) causing a frameshift mutation at codon 140 in the same exon, on the other allele. This last mutation probably leads to the synthesis of a truncated protein, because a premature termination signal is created at codon 159.
dc.description87
dc.description221-5
dc.languageeng
dc.relationAmerican Journal Of Medical Genetics
dc.relationAm. J. Med. Genet.
dc.rightsfechado
dc.rightsCopyright 1999 Wiley-Liss, Inc.
dc.sourcePubMed
dc.subject3-oxo-5-alpha-steroid 4-dehydrogenase
dc.subjectAmino Acid Sequence
dc.subjectAmino Acid Substitution
dc.subjectBase Sequence
dc.subjectBrazil
dc.subjectCodon
dc.subjectDisorders Of Sex Development
dc.subjectExons
dc.subjectFrameshift Mutation
dc.subjectGender Identity
dc.subjectGenes, Recessive
dc.subjectHeterozygote
dc.subjectHumans
dc.subjectHypospadias
dc.subjectInfant, Newborn
dc.subjectIsoenzymes
dc.subjectMale
dc.subjectMolecular Sequence Data
dc.subjectPhenotype
dc.subjectPoint Mutation
dc.subjectPuberty
dc.subjectSequence Deletion
dc.subjectSexual Behavior
dc.subjectTerminator Regions, Genetic
dc.titleNew Frameshift Mutation In The 5alpha-reductase Type 2 Gene In A Brazilian Patient With 5alpha-reductase Deficiency.
dc.typeArtículos de revistas


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