XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: Genetic analysis in one family
| Autor: | Giovanna Camerino, Sandrine Imbeaud, Filippo Uccellatore, Orietta Radi, Maria Rita Nasca, Paola Maraschio, Luciano Tiepolo, Pietro Parma, Giuseppe Micali |
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| Rok vydání: | 2005 |
| Předmět: |
Male
Genetics Skin Neoplasms Hyperkeratosis Genes Recessive Sex Determination Processes Biology Sex reversal medicine.disease Genetic determinism Pedigree Testis determining factor Palmoplantar keratoderma Epidermoid carcinoma Keratoderma Palmoplantar Genetic linkage Carcinoma Squamous Cell medicine Humans Female Genetic Predisposition to Disease Lod Score Keratoderma Genetics (clinical) |
| Zdroj: | American Journal of Medical Genetics Part A. :241-246 |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.30935 |
| Popis: | We describe a large inbred Sicilian family that includes four 46, XX (SRY-) brothers. Palmoplantar hyperkeratosis (PPK) and an associated predisposition to squamous cell carcinoma (SCC) of the skin, segregates as a recessive trait within the family. Interestingly, all the PPK-affected members of the family are phenotypic males (46,XY or 46,XX) while seven XX sibs are healthy phenotypic females with no signs of PPK. We propose that homozygosity for a single mutational event, possibly including contiguous genes, may cause PPK/SCC in both XY or XX individuals and sex reversal in XX individuals. The family is informative for linkage analysis for the PPK trait and allows linkage exclusion for the sex reversal trait. Here we show that 15 loci involved in PPK etiology, skin differentiation, function or malignancy, and nine loci involved in sex determination/differentiation are not implicated in the phenotype of this family. |
| Databáze: | OpenAIRE |
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