Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47, XXY Karyotype

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorBATISTA, Rafael L.
dc.contributor.authorRODRIGUES, Andresa S.
dc.contributor.authorNISHI, Mirian Y.
dc.contributor.authorFEITOSA, Alina C. R.
dc.contributor.authorGOMES, Nathalia L. R. A.
dc.contributor.authorJUNIOR, Jose Antonio F.
dc.contributor.authorDOMENICE, Sorahia
dc.contributor.authorCOSTA, Elaine M. F.
dc.contributor.authorMENDONCA, Berenice B. de
dc.date.accessioned2017-08-17T19:14:57Z
dc.date.available2017-08-17T19:14:57Z
dc.date.issued2017
dc.description.abstractThere are only 2 patients with 47, XXY karyotype and androgen receptor (AR) gene mutation reported in the literature, and both are diagnosed as complete androgen insensitivity syndrome (CAIS). We report a 22-year-old female with 47, XXY karyotype and atypical external genitalia. Sequencing of AR revealed the heterozygous p.Asn849Lys*32 mutation, and extensive X chromosome microsatellite analysis showed homozygosity for Xp and heterozygosity for Xq, suggesting partial X maternal isodisomy. Partial androgen insensitivity syndrome (PAIS) developed in this case, probably because of the presence of the heterozygous AR mutation and random X-inactivation of the healthy allele. This is the first report of a female patient with 47, XXY karyotype and PAIS phenotype. (C) 2017 S.Karger AG, Basel
dc.description.indexMEDLINE
dc.description.sponsorshipFAPESP (Sao Paulo Research Foundation) [2013/02162-8, 2014/50137-5]
dc.identifier.citationSEXUAL DEVELOPMENT, v.11, n.2, p.78-81, 2017
dc.identifier.doi10.1159/000468957
dc.identifier.eissn1661-5433
dc.identifier.issn1661-5425
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/21249
dc.language.isoeng
dc.publisherKARGER
dc.relation.ispartofSexual Development
dc.rightsrestrictedAccess
dc.rights.holderCopyright KARGER
dc.subjectAndrogen insensitivity syndrome
dc.subjectAndrogen receptor gene
dc.subjectHeterozygous mutation
dc.subjectKlinefelter syndrome
dc.subjectSomatic mosaicism
dc.subject.othertesticular feminization
dc.subject.otherklinefelters-syndrome
dc.subject.othersomatic mosaicism
dc.subject.other47,xxy karyotype
dc.subject.otherhypogonadism
dc.subject.otherchromosome
dc.subject.otherpatient
dc.subject.wosDevelopmental Biology
dc.titleHeterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47, XXY Karyotype
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.author.externalFEITOSA, Alina C. R.:Escola Baiana Med, Salvador, BA, Brazil; Santa Casa Misericordia Bahia, Salvador, BA, Brazil
hcfmusp.citation.scopus10
hcfmusp.contributor.author-fmusphcRAFAEL LOCH BATISTA
hcfmusp.contributor.author-fmusphcANDRESA DE SANTI RODRIGUES
hcfmusp.contributor.author-fmusphcMIRIAN YUMIE NISHI
hcfmusp.contributor.author-fmusphcNATHALIA LISBOA ROSA ALMEIDA GOMES
hcfmusp.contributor.author-fmusphcJOSE ANTONIO DINIZ FARIA JUNIOR
hcfmusp.contributor.author-fmusphcSORAHIA DOMENICE
hcfmusp.contributor.author-fmusphcELAINE MARIA FRADE COSTA
hcfmusp.contributor.author-fmusphcBERENICE BILHARINHO DE MENDONCA
hcfmusp.description.beginpage78
hcfmusp.description.endpage81
hcfmusp.description.issue2
hcfmusp.description.volume11
hcfmusp.origemWOS
hcfmusp.origem.pubmed28456808
hcfmusp.origem.scopus2-s2.0-85018754483
hcfmusp.origem.wosWOS:000402749200004
hcfmusp.publisher.cityBASEL
hcfmusp.publisher.countrySWITZERLAND
hcfmusp.relation.referenceBonomi M, 2017, J ENDOCRINOL INVEST, V40, P123, DOI 10.1007/s40618-016-0541-6
hcfmusp.relation.referenceGERLI M, 1979, J MED GENET, V16, P480, DOI 10.1136/jmg.16.6.480
hcfmusp.relation.referenceGERMAN J, 1966, ANN GENET-PARIS, V9, pG5
hcfmusp.relation.referenceGirardin CM, 2009, J PEDIATR-US, V155, P439, DOI 10.1016/j.jpeds.2009.02.052
hcfmusp.relation.referenceGottlieb B, 2001, TRENDS GENET, V17, P79, DOI 10.1016/S0168-9525(00)02178-8
hcfmusp.relation.referenceGottlieb B, 2012, HUM MUTAT, V33, P887, DOI 10.1002/humu.22046
hcfmusp.relation.referenceHolterhus PM, 1999, PEDIATR RES, V46, P684, DOI 10.1203/00006450-199912000-00008
hcfmusp.relation.referenceJACOBS PA, 1988, ANN HUM GENET, V52, P93, DOI 10.1111/j.1469-1809.1988.tb01084.x
hcfmusp.relation.referenceJACOBS PA, 1959, NATURE, V183, P302, DOI 10.1038/183302a0
hcfmusp.relation.referenceKlinefelter HF, 1942, J CLIN ENDOCRINOL, V2, P615
hcfmusp.relation.referenceLee YS, 2007, HORM RES, V68, P150, DOI 10.1159/000106375
hcfmusp.relation.referenceMelo KFS, 2003, J CLIN ENDOCR METAB, V88, P3241, DOI 10.1210/jc.2002-021658
hcfmusp.relation.referenceMULLER U, 1990, HUM GENET, V84, P289
hcfmusp.relation.referenceNieschlag E, 2013, DTSCH ARZTEBL INT, V110, P347, DOI 10.3238/arztebl.2013.0347
hcfmusp.relation.referenceSaavedra-Castillo E, 2005, J REPROD MED, V50, P138
hcfmusp.relation.referenceUehara S, 1999, AM J MED GENET, V86, P107, DOI 10.1002/(SICI)1096-8628(19990910)86:2<107::AID-AJMG3>3.0.CO;2-4
hcfmusp.scopus.lastupdate2024-05-10
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