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Genetic alterations of the FOXN1 transcription factor, selectively expressed in thymic epithelia and skin, are responsible in both mice and humans for the Nude/SCID phenotype. The first described human FOXN1 mutation was a C792T transition in exon 5 resulting in the nonsense mutation R255X, and was detected in two probands originated from a small community in southern Italy. In this community, four additional children affected with congenital alopecia died in early childhood because of severe infections. In this study, we report on the screening for this mutation in 30% of the village population. This analysis led us to identify 55 heterozygous carriers (6.52%) of the R255X mutation out of 843 inhabitants screened. A genealogical study revealed that these subjects, belonging to 39 families, were linked in an extended 7-generational pedigree comprising 483 individuals. Through the archival database a single ancestral couple, born at the beginning of the 19th century, was identified. To confirm the ancestral origin of the mutation we genotyped two microsatellite markers, D17S2187 and D17S1880, flanking the FOXN1 gene on chromosome 17. The three haplotypes identified, 3/R255X/3, 3/R255X/2 and 3/R255X/1, are consistent with a single ancestral origin for the mutation R255X.

The present report focuses on the association between baldness pattern and coronary heart disease risk factors in 872 male factory workers from southern Italy participating in an epidemiological study. Participants were divided according to presence or absence of baldness and baldness pattern. Participants with fronto-occipital baldness (male-type baldness) (n = 280) characterized by hair loss centered over the vertex with an m-shaped frontal-temporal recession had, on the average, higher serum cholesterol and blood pressure compared to participants with no baldness (n = 321) and/or participants with just frontal baldness (n = 273). For serum cholesterol, a significant interaction was detected between age and fronto-occipital baldness (i.e. the association between fronto-occipital baldness and elevated levels of serum cholesterol became weaker with age). No interaction was detectable between age and fronto-occipital baldness for blood pressure. The results of this cross-sectional study indicate that male-type pattern of baldness is associated with elevated CHD risk profile, and that this relation between age and serum cholesterol differs in younger compared to older men.