• PMID: 1430233
• Gene Name: AR
• Condition: Testicular feminization, Reifenstein syndrome
• Association: The underlying functional defect in cultured skin fibroblasts included individuals with absent, qualitative, or quantitative defects in ligand binding. 19 of the 21 substitution mutations (90%) cluster in two regions that account for approximately 35% of
• PMID: 1430233
• Gene Name: AR
• Condition: Testicular feminization, Reifenstein syndrome
• Association: The underlying functional defect in cultured skin fibroblasts included individuals with absent, qualitative, or quantitative defects in ligand binding. 19 of the 21 substitution mutations (90%) cluster in two regions that account for approximately 35% of
• Population size: 22
• Population details: 22 (11 had complete testicular feminization, 4 had incomplete testicular feminization, 7 had Reifenstein syndrome )
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Testicular feminization, Reifenstein syndrome

Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene

McPhaul MJ, Marcelli M, Zoppi S, Wilson CM, Griffin JE, Wilson JD.

We have analyzed the nucleotide sequence of the androgen receptor from 22 unrelated subjects with substitution mutations of the hormone-binding domain. Eleven had the phenotype of complete testicular feminization, four had incomplete testicular feminization, and seven had Reifenstein syndrome. The underlying functional defect in cultured skin fibroblasts included individuals with absent, qualitative, or quantitative defects in ligand binding. 19 of the 21 substitution mutations (90%) cluster in two regions that account for approximately 35% of the hormone-binding domain, namely, between amino acids 726 and 772 and between amino acids 826 and 864. The fact that one of these regions is homologous to a region of the human thyroid hormone receptor (hTR-beta) which is a known cluster site for mutations that cause thyroid hormone resistance implies that this localization of mutations is not a coincidence. These regions of the androgen receptor may be of particular importance for the formation and function of the hormone-receptor complex. FAU - McPhaul, M J AU - McPhaul MJ AD - Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas 75235-8857. FAU - Marcelli, M AU - Marcelli M FAU - Zoppi, S AU - Zoppi S FAU - Wilson, C M AU - Wilson CM FAU - Griffin, J E AU - Griffin JE