AI Article Synopsis
- * A new mutation, W752G, was discovered in a family with CAIS, and its effects, along with another mutation (W752R), were analyzed using in vitro studies and structural analysis.
- * The study suggests that understanding the specific amino acid changes can enhance the correlation between phenotype and genotype, potentially influencing patient management and follow-up care.
Article Abstract
Mutations of the androgen receptor (AR) gene are the most frequent cause of 46,XY disorders of sex development. They are associated with a variety of phenotypes, ranging from phenotypic women (complete androgen insensitivity syndrome, CAIS) to milder degrees of undervirilization (partial forms) or men with only infertility (mild form). We identified a new W752G AR mutation responsible for a familial case of CAIS and performed an in vitro study and structural analysis of this mutation and the only other reported substitution affecting the same amino acid (W752R). Although sex assignment is not discussed in cases of CAIS, we show how the phenotype-genotype correlation can be refined by in vitro and structural studies according to the nature of the amino acid substitution, which in turn may have interesting impacts on the follow-up of these patients.
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| http://dx.doi.org/10.1159/000491114 | DOI Listing |
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