Premium
XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: Genetic analysis in one family
Author(s) -
Radi Orietta,
Parma Pietro,
Imbeaud Sandrine,
Nasca Maria Rita,
Uccellatore Filippo,
Maraschio Paola,
Tiepolo Luciano,
Micali Giuseppe,
Camerino Giovanna
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30935
Subject(s) - genetics , biology , hyperkeratosis , phenotype , palmoplantar keratoderma , genetic predisposition , keratoderma , genetic linkage , gene
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. © 2005 Wiley‐Liss, Inc.