Clinical Genetics · 1996 · 12 citations · 18 references
MedicineGeneticsMolecular GeneticsEndocrine GeneticsHuman GeneticsMedical GeneticsCongenital Endocrine DisordersDisorders Of Sex DevelopmentGenetic DisordersHormone Receptor GeneticsInherited Endocrine SyndromesSteroid Hormone SignalingAndrogen Receptor GeneticsAndrogen ReceptorsComplete Androgen Insensitivity SyndromeHormone Receptor Gene MutationsMutationMutation Hotspot AnalysisSexual Development DisruptionX-linked Recessive Inheritance
Mutations of the human androgen receptor gene may disturb sexual development in males, and are inherited as an X-linked recessive trait. The vast majority of the mutations are familial. We have identified a large kindred with complete androgen insensitivity syndrome (CAIS) without detectable androgen-binding in genital skin fibroblasts. A single nucleotide substitution (C-to-T transition) was identified, resulting in an Arg855 to Cys in the androgen binding domain. To date, four independent CAIS families have been reported with this specific mutation that coincides with the propensity of cytosines at CpG dinucleotides to methylate. An allele-specific oligo-nucleotide assay was developed that allowed for the rapid and specific identification of this mutation hot-spot in individuals with androgen receptor insensitivity syndromes.
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Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
Albert R. La Spada, Elizabeth Wilson, Dennis B. Lubahn et al. · Nature · 1991 · 2.8K citations