Mutational analysis of androgen receptor gene in two families with androgen insensitivity
Background: Androgen insensitivity syndrome (AIS) is a rare X-linked disorder due to mutations in the androgen receptor (AR) gene causing end-organ resistance to the androgenic hormone. Subjects and Methods: Genetic studies were carried out in two families by karyotype and targeted exome sequencing...
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doaj-5a19aa4510da4c66bedc2e2a950e545c2020-11-25T00:27:27ZengWolters Kluwer Medknow PublicationsIndian Journal of Endocrinology and Metabolism2230-82102017-01-0121452052310.4103/ijem.IJEM_345_16Mutational analysis of androgen receptor gene in two families with androgen insensitivityRadha Ramadevi AkellaBackground: Androgen insensitivity syndrome (AIS) is a rare X-linked disorder due to mutations in the androgen receptor (AR) gene causing end-organ resistance to the androgenic hormone. Subjects and Methods: Genetic studies were carried out in two families by karyotype and targeted exome sequencing of the AR gene. Results: Two novel missense mutations were identified, p.L822P and p.P392S, in two families with complete androgen insensitivity (CAIS) and partial androgen insensitivity (PAIS), respectively. Both had 46, XY karyotype. The mother was a heterozygous carrier in PAIS and negative in CAIS. These two were novel mutations, reported for the first time, in the AR gene. In silico analysis predicted that both mutations were damaging. We reviewed the various reported Indian mutations in the AR gene. Conclusion: AR gene mutations cause a wide spectrum of disorders from CAIS to male infertility or primary amenorrhea. Early diagnosis is essential for gender assignment and further management, family counseling, and prenatal diagnosis.http://www.ijem.in/article.asp?issn=2230-8210;year=2017;volume=21;issue=4;spage=520;epage=523;aulast=AkellaAndrogen insensitivity syndromeandrogen receptor genemutationX-linked recessive disorderXY karyotype |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Radha Ramadevi Akella |
spellingShingle |
Radha Ramadevi Akella Mutational analysis of androgen receptor gene in two families with androgen insensitivity Indian Journal of Endocrinology and Metabolism Androgen insensitivity syndrome androgen receptor gene mutation X-linked recessive disorder XY karyotype |
author_facet |
Radha Ramadevi Akella |
author_sort |
Radha Ramadevi Akella |
title |
Mutational analysis of androgen receptor gene in two families with androgen insensitivity |
title_short |
Mutational analysis of androgen receptor gene in two families with androgen insensitivity |
title_full |
Mutational analysis of androgen receptor gene in two families with androgen insensitivity |
title_fullStr |
Mutational analysis of androgen receptor gene in two families with androgen insensitivity |
title_full_unstemmed |
Mutational analysis of androgen receptor gene in two families with androgen insensitivity |
title_sort |
mutational analysis of androgen receptor gene in two families with androgen insensitivity |
publisher |
Wolters Kluwer Medknow Publications |
series |
Indian Journal of Endocrinology and Metabolism |
issn |
2230-8210 |
publishDate |
2017-01-01 |
description |
Background: Androgen insensitivity syndrome (AIS) is a rare X-linked disorder due to mutations in the androgen receptor (AR) gene causing end-organ resistance to the androgenic hormone. Subjects and Methods: Genetic studies were carried out in two families by karyotype and targeted exome sequencing of the AR gene. Results: Two novel missense mutations were identified, p.L822P and p.P392S, in two families with complete androgen insensitivity (CAIS) and partial androgen insensitivity (PAIS), respectively. Both had 46, XY karyotype. The mother was a heterozygous carrier in PAIS and negative in CAIS. These two were novel mutations, reported for the first time, in the AR gene. In silico analysis predicted that both mutations were damaging. We reviewed the various reported Indian mutations in the AR gene. Conclusion: AR gene mutations cause a wide spectrum of disorders from CAIS to male infertility or primary amenorrhea. Early diagnosis is essential for gender assignment and further management, family counseling, and prenatal diagnosis. |
topic |
Androgen insensitivity syndrome androgen receptor gene mutation X-linked recessive disorder XY karyotype |
url |
http://www.ijem.in/article.asp?issn=2230-8210;year=2017;volume=21;issue=4;spage=520;epage=523;aulast=Akella |
work_keys_str_mv |
AT radharamadeviakella mutationalanalysisofandrogenreceptorgeneintwofamilieswithandrogeninsensitivity |
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1725339619166257152 |