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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Citações na Scopus
10
Tipo de produção
article
Data de publicação
2017
Título da Revista
ISSN da Revista
Título do Volume
Editora
KARGER
Citação
SEXUAL DEVELOPMENT, v.11, n.2, p.78-81, 2017
Resumo
There 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
Palavras-chave
Androgen insensitivity syndrome, Androgen receptor gene, Heterozygous mutation, Klinefelter syndrome, Somatic mosaicism
Referências
- Bonomi M, 2017, J ENDOCRINOL INVEST, V40, P123, DOI 10.1007/s40618-016-0541-6
- GERLI M, 1979, J MED GENET, V16, P480, DOI 10.1136/jmg.16.6.480
- GERMAN J, 1966, ANN GENET-PARIS, V9, pG5
- Girardin CM, 2009, J PEDIATR-US, V155, P439, DOI 10.1016/j.jpeds.2009.02.052
- Gottlieb B, 2001, TRENDS GENET, V17, P79, DOI 10.1016/S0168-9525(00)02178-8
- Gottlieb B, 2012, HUM MUTAT, V33, P887, DOI 10.1002/humu.22046
- Holterhus PM, 1999, PEDIATR RES, V46, P684, DOI 10.1203/00006450-199912000-00008
- JACOBS PA, 1988, ANN HUM GENET, V52, P93, DOI 10.1111/j.1469-1809.1988.tb01084.x
- JACOBS PA, 1959, NATURE, V183, P302, DOI 10.1038/183302a0
- Klinefelter HF, 1942, J CLIN ENDOCRINOL, V2, P615
- Lee YS, 2007, HORM RES, V68, P150, DOI 10.1159/000106375
- Melo KFS, 2003, J CLIN ENDOCR METAB, V88, P3241, DOI 10.1210/jc.2002-021658
- MULLER U, 1990, HUM GENET, V84, P289
- Nieschlag E, 2013, DTSCH ARZTEBL INT, V110, P347, DOI 10.3238/arztebl.2013.0347
- Saavedra-Castillo E, 2005, J REPROD MED, V50, P138
- Uehara 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