The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21

Abstract

Naegeli-Franceschetti-Jadassohn syndrome is a rare autosomal dominant form of ectodermal dysplasia affecting sweat glands, nails, teeth, and skin. We have studied a multigeneration family of Anglo-Saxon British descent using microsatellite markers to screen candidate loci, including the epidermal differentiation complex on 1q, the keratin gene clusters on chromosomes 12q and 17q and the desmosomal cadherin gene cluster on chromosome 18q. Significant genetic linkage to chromosome 17q was observed using marker D17S1787, with a maximum two-point LOD score of 4.166 at a recombination fraction of θ = 0. Recombination events in the family place the gene in a 26.97cM interval between markers D17S798 and D17S957, a region known to contain the type I keratin gene cluster and other genes expressed in epithelia. Keratins K15, K19, and K20, plakoglobin, and MEOX1 were excluded as candidates by direct sequencing of genomic polymerase chain reaction products.