Molecular Diagnosis Of 5α-reductase Type Ii Deficiency In Brazilian Siblings With 46,xy Disorder Of Sex Development

dc.creatorde Calais F.L.
dc.creatorSoardi F.C.
dc.creatorPetroli R.J.
dc.creatorLusa A.L.G.
dc.creatorde Paiva e Silva R.B.
dc.creatorMaciel-Guerra A.T.
dc.creatorGuerra-Junior G.
dc.creatorde Mello M.P.
dc.date2011
dc.date2015-06-30T20:46:05Z
dc.date2015-11-26T14:55:01Z
dc.date2015-06-30T20:46:05Z
dc.date2015-11-26T14:55:01Z
dc.date.accessioned2018-03-28T22:07:03Z
dc.date.available2018-03-28T22:07:03Z
dc.identifier
dc.identifierInternational Journal Of Molecular Sciences. , v. 12, n. 12, p. 9471 - 9480, 2011.
dc.identifier14220067
dc.identifier10.3390/ijms12129471
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-84055200097&partnerID=40&md5=57917ad979ed5e56415949397a8e58e4
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/109153
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/109153
dc.identifier2-s2.0-84055200097
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1255268
dc.descriptionThe steroid 5α-reductase type II enzyme catalyzes the conversion of testosterone (T) to dihydrotestosterone (DHT), and its deficiency leads to undervirilization in 46,XY individuals, due to an impairment of this conversion in genital tissues. Molecular analysis in the steroid 5α-reductase type II gene (SRD5A2) was performed in two 46,XY female siblings. SRD5A2 gene sequencing revealed that the patients were homozygous for p.Gln126Arg missense mutation, which results from the CGA > CAA nucleotide substitution. The molecular result confirmed clinical diagnosis of 46,XY disorder of sex development (DSD) for the older sister and directed the investigation to other family members. Studies on SRD5A2 protein structure showed severe changes at NADPH binding region indicating that structural modeling analysis can be useful to evaluate the deleterious role of a mutation as causing 5α-reductase type II enzyme deficiency. © 2011 by the authors; licensee MDPI, Basel, Switzerland.
dc.description12
dc.description12
dc.description9471
dc.description9480
dc.descriptionRussell, D.W., Wilson, J.D., Steroids 5α-reductase: Two genes/two enzymes (1994) Annu. Rev. Biochem, 63, pp. 25-61
dc.descriptionAndersson, S., Berman, D.M., Jenkins, E.P., Russel, D.W., Deletion of steroid 5α-reductase 2 gene in male peseudohermaphroditism (1991) Nature, 354, pp. 159-161
dc.descriptionPasterski, V., Prentice, P., Hughes, I.A., Consequences of the Chicago consensus on disorders of sex development (DSD): Current practices in Europe (2010) Arch. Dis. Child, 95, pp. 618-623
dc.descriptionThipgen, A.E., Davis, D.L., Milatovich, A., Mendonça, B.B., Imperator-McGingley, J., Griffin, J.E., Francke, U., Russel, D.W., Molecular genetics of 5α-reductase deficiency (1992) J. Clin. Invest, 90, pp. 799-809
dc.descriptionWilson, J.D., Characterization of the testicular abnormality in 5a-reductase deficiency (1986) J. Clin. Endocrinol. Metabol, 63, pp. 1091-1099
dc.descriptionSinnecker, G.H.G., Hiort, O., Dibbelt, L., Albers, N., Dorr, H.G., Hauss, H., Heinrich, U., Kruse, K., Phenotypic classification of male pseudo-hermaphroditism due to steroid 5alfa-reductase 2 deficiency (1996) Am. J. Med. Genet, 63, pp. 223-230
dc.descriptionHughes, I.A., Minireview: Sex differentiation (2001) Endocrinology, 142, pp. 3281-3287
dc.descriptionHackel, C., Oliveira, L.E.C., Toralles, B., Silva, D.N., Tonini, M.M.O., Ferraz, L.F.C., Steinmetz, L., Guerra-Junior, G., 5alpha-reductase type 2 deficiency: Experiences from Campinas (SP) and Salvador (BA) (2005) Arq. Bras. Endocrinol. Metabol, 49, pp. 37-47
dc.descriptionWilson, J.D., Griffin, J.E., Russell, D.W., Steroid 5alfa-reductase 2 deficiency (1993) Endocr. Rev, 14, pp. 577-593
dc.descriptionWigley, W.C., Prihoda, J.S., Mowszowicz, I., Mendonça, B.B., New, M.I., Wilson, J.D., Russell, D.W., Natural mutagenesis study of the human steroid 5alfa-reductase 2 isozyme (1994) Biochemistry, 33, pp. 1265-1270
dc.descriptionGriffin, J.I., McPhaul, M.J., Russell, D.W., Wilson, J.D., The Androgen Resistance Syndromes: Steroid 5 Alfa-Reductase Type 2 Deficiency, Testicular Feminization and Related Disorders (2001) The Metabolic and Molecular Basis of Inherited Diseases, pp. 4117-4146. , Mcgraw-Hill: New York, NY, USA
dc.descriptionFerraz, L.F.C., Baptista, M.T.M., Maciel-Guerra, A.T., Guerra-Júnior, G., Hackel, C., New frameshift mutation in the5alpha-reductase type II gene in a Brazilian patient with 5alpha-reductase deficiency (1999) Am. J. Med. Genet, 87, pp. 221-225
dc.descriptionForti, G., Falchetti, A., Santoro, S., Davis, D.L., Wilson, J.D., Russell, D.W., Steroid 5α-reductase 2 deficiency: Virilization in early infancy may be due to partial function of mutant enzyme (1996) Clin. Endocrinol. (Oxf), 44, pp. 477-482
dc.descriptionBoudon, C., Lumbroso, S., Lobaccaro, J.M., Szarras-Czapnik, M., Romer, T.E., Garandeau, P., Montoya, P., Sultan, C., Molecular study of the 5alpha-reductase type II gene in three European families with 5alpha-reductase deficiency (1995) J. Clin. Endocrinol. Metabol, 80, pp. 2149-2153
dc.descriptionMendonça, B.B., Inácio, M., Costa, E.M., Arnhold, I.J., Silva, F.A., Nicolau, W., Bloise, W., Wilson, J.D., Male pseudohermaphroditism due to steroid 5alpha-reductase 2 deficiency. Diagnosis, psychological evaluation, and management (1996) Medicine (Baltimore), 75, pp. 64-76
dc.descriptionHackel, C., Oliveira, L.E.C., Ferraz, L.F.C., Tonini, M.M.O., Silva, D.N., Toralles, M.B., Stuchi-Perez, E.G., Guerra-Junior, G., New mutations, hotspots and founder effects in Brazilian patients with steroid 5α-reductase deficiency type II (2005) J. Mol. Med, 83, pp. 569-576
dc.descriptionMaimoun, L., Philibert, P., Cammas, B., Audran, F., Bouchard, P., Fenichel, P., Cartigny, M., Skordis, N., Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: An extensive international experience of 55 patients (2011) J. Clin. Endocrinol. Metabol, 96, pp. 296-307
dc.descriptionFernández-Cancio, M., Audí, L., Andaluz, P., Torán, N., Piró, C., Albisu, M., Gussinyé, M., Carrascosa, A., SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation (2011) Int. J. Androl, 34, pp. e526-e535
dc.description(2010) Basic Local Alignment Search Tool, , Http://blast.ncbi.nlm.nih.gov/Blast.cgi, Basic Local Alignment Search Tool. Available online, (accessed on 27 May)
dc.descriptionSanchez, R., Pieper, U., Melo, F., Eswar, N., Marti-Renom, M.A., Madhusudhan, M.S., Mirković, N., Sali, A., Protein structure modeling for structural genomics (2000) Nat. Struct. Biol, 7, pp. 986-990
dc.descriptionDrury, J.E., Costanzo, L.D., Penning, T.M., Christianson, D.W., Inhibition of human steroid 5beta-reductase (AKR1D1) by finasteride and structure of the enzyme-inhibitor complex (2009) J. Biol. Chem, 284, pp. 19786-19790
dc.descriptionRussell, D.W., The enzymes, regulation, and genetics of bile acid synthesis (2003) Annu. Rev. Biochem, 72, pp. 137-174
dc.descriptionNeshich, G., Borro, L.C., Higa, R.H., Kuser, P.R., Yamagishi, M.E., Franco, E.H., Krauchenco, J.N., Bezerra, G.B., The Diamond STING server (2005) Nucleic Acids Res, 33, pp. W29-W35
dc.languageen
dc.publisher
dc.relationInternational Journal of Molecular Sciences
dc.rightsaberto
dc.sourceScopus
dc.titleMolecular Diagnosis Of 5α-reductase Type Ii Deficiency In Brazilian Siblings With 46,xy Disorder Of Sex Development
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución