BACKGROUND/AIMS: Androgen insensitivity syndrome (AIS) caused by mutations within the androgen receptor gene represents a variety of phenotypes from females with 46,XY karyotype over individuals with ambiguous genitalia to infertile males. METHODS: We studied 24 patients with AIS by sequencing androgen receptor gene. 19 of the investigated patients were affected by complete androgen insensitivity syndrome (CAIS) and 5 suffered from partial androgen insensitivity syndrome (PAIS). RESULTS: So far we have detected 12 unreported mutations as well as 9 recurrent mutations (3 recurrent mutations were detected twice) in exons 2-8 of the androgen receptor gene. Three of the novel mutations cause a frameshift with subsequent premature termination and were found in patients with CAIS. These frameshifts were induced by single nucleotide deletion or insertion, or in one case by a 13-bp deletion, respectively. Another premature stop codon found in a CAIS patient results from an already reported nucleotide substitution in exon 5. Furthermore, in a CAIS patient we found a novel duplication of codon 788. All other mutations caused single base substitutions spread through exons 2-8 and were associated with CAIS or PAIS. CONCLUSIONS: We report a broad spectrum of different mutations within the AR gene leading to various manifestations of AIS. Apart from truncating mutations, a reliable genotype/phenotype correlation cannot be established. Therefore, modifying factors must be effective. Copyright 2005 S. Karger AG, Basel.
BACKGROUND/AIMS: Androgen insensitivity syndrome (AIS) caused by mutations within the androgen receptor gene represents a variety of phenotypes from females with 46,XY karyotype over individuals with ambiguous genitalia to infertile males. METHODS: We studied 24 patients with AIS by sequencing androgen receptor gene. 19 of the investigated patients were affected by complete androgen insensitivity syndrome (CAIS) and 5 suffered from partial androgen insensitivity syndrome (PAIS). RESULTS: So far we have detected 12 unreported mutations as well as 9 recurrent mutations (3 recurrent mutations were detected twice) in exons 2-8 of the androgen receptor gene. Three of the novel mutations cause a frameshift with subsequent premature termination and were found in patients with CAIS. These frameshifts were induced by single nucleotide deletion or insertion, or in one case by a 13-bp deletion, respectively. Another premature stop codon found in a CAIS patient results from an already reported nucleotide substitution in exon 5. Furthermore, in a CAIS patient we found a novel duplication of codon 788. All other mutations caused single base substitutions spread through exons 2-8 and were associated with CAIS or PAIS. CONCLUSIONS: We report a broad spectrum of different mutations within the AR gene leading to various manifestations of AIS. Apart from truncating mutations, a reliable genotype/phenotype correlation cannot be established. Therefore, modifying factors must be effective. Copyright 2005 S. Karger AG, Basel.
Authors: Solène Grosdidier; Laia R Carbó; Víctor Buzón; Greg Brooke; Phuong Nguyen; John D Baxter; Charlotte Bevan; Paul Webb; Eva Estébanez-Perpiñá; Juan Fernández-Recio Journal: Mol Endocrinol Date: 2012-05-31
Authors: Adam T Szafran; Sean Hartig; Huiying Sun; Ivan P Uray; Maria Szwarc; Yuqing Shen; Sanjay N Mediwala; Jennifer Bell; Michael J McPhaul; Michael A Mancini; Marco Marcelli Journal: PLoS One Date: 2009-12-09 Impact factor: 3.240
Authors: Lucia Lanciotti; Marta Cofini; Alberto Leonardi; Mirko Bertozzi; Laura Penta; Susanna Esposito Journal: Int J Environ Res Public Health Date: 2019-04-09 Impact factor: 3.390