Medizinische Universität Graz - Research portal
Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Ledig, S; Jakubiczka, S; Neulen, J; Aulepp, U; Burck-Lehmann, U; Mohnike, K; Thiele, H; Zierler, H; Brewer, C; Wieacker, P.
Novel and recurrent mutations in patients with androgen insensitivity syndromes.
Horm Res. 2005; 63(6):263-269
Doi: 10.1159/000086018
Web of Science
PubMed
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- Co-authors Med Uni Graz
- Zierler Hannelore
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- Abstract:
- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Adolescent -
- Adult -
- Androgen-Insensitivity Syndrome - genetics
- Child - genetics
- Child, Preschool - genetics
- DNA - chemistry
- Female - chemistry
- Frameshift Mutation - chemistry
- Humans - chemistry
- Infant - chemistry
- Male - chemistry
- Mutation - chemistry
- Point Mutation - chemistry
- Polymerase Chain Reaction - chemistry
- Receptors, Androgen - genetics
- Sequence Analysis, DNA - genetics
- Find related publications in this database (Keywords)
- androgen receptor gene
- androgen insensitivity syndrome
- novel and recurrent mutations
- duplication
- deletion/insertion
- substitution