title: Mutation analysis of androgen receptor gene: multiple uses for a single test.
abstract: Androgen receptor gene mutations are one of the leading causes of disorders of sex development (DSD) exhibited by sexual ambiguity or sex reversal. In this study, 2 families with patients whom diagnosed clinically as androgen insensitivity syndrome (AIS) were physically and genetically examined. This evaluation carried out by cytogenetic and molecular analysis including karyotype and sequencing of SRY and AR genes. In family 1, two brothers and their mother were hemizygous and heterozygous respectively for c.2522G>A variant, while one of their healthy brother was a completely normal hemizygote. Family 2 assessment demonstrated the c.639G>A (rs6152) mutation in two siblings who were reared as girls. The SRY gene was intact in all of the study's participants. Our findings in family 1 could be a further proof for the pathogenicity of the c.2522G>A variant. Given the importance of AR mutations in development of problems such as sex assignment in AIS patients, definitive diagnosis and phenotype-genotype correlation could be achieved by molecular genetic tests that in turn could have promising impacts in clinical management and also in prenatal diagnosis of prospect offspring. In this regard, phenotype-genotype correlation could be helpful and achieved by molecular genetic tests. This could influence the clinical management of the patients as well as prenatal diagnosis for the prospective offspring.
authors.affiliation: Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Azadeh
authors.initials: A
authors.lastname: Shojaei
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Farkhondeh
authors.initials: F
authors.lastname: Behjati
authors.affiliation: Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Reza
authors.initials: R
authors.lastname: Ebrahimzadeh-Vesal
authors.affiliation: Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran; H. Aliasghar Hospital, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Maryam
authors.initials: M
authors.lastname: Razzaghy-Azar
authors.affiliation: MGZ, Medizinisch Genetisches Zentrum, Bayerstraße 3-5, Eingang Schlosserstraße 6, 80335 München, Germany.
authors.forename: Pupak
authors.initials: P
authors.lastname: Derakhshandeh-Peykar
authors.affiliation: Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Pantea
authors.initials: P
authors.lastname: Izadi
authors.affiliation: Pediatric Urology Research Center, Department of Urology, Children's Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Abdol-Mohammad
authors.initials: AM
authors.lastname: Kajbafzadeh
authors.affiliation: Research Center for Biochemistry and Nutrition in Metabolic Disease, Kashan University of Medical Sciences, Kashan, Iran.
authors.forename: Mohammad-Ali
authors.initials: MA
authors.lastname: Dowlatih
authors.affiliation: Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Karami
authors.affiliation: Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Electronic address: tavakkolybazzazj@tums.ac.ir.
authors.forename: Javad
authors.initials: J
authors.lastname: Tavakkoly-Bazzaz
mesh_terms: D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000523:psychology; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D011944:Receptors, Androgen / Q000235:genetics*
chemical_list: D011944:Receptors, Androgen