Sj. Bale et al., CONGENITAL RECESSIVE ICHTHYOSIS UNLINKED TO LOCI FOR EPIDERMAL TRANSGLUTAMINASES, Journal of investigative dermatology, 107(6), 1996, pp. 808-811
Congenital recessive ichthyosis has a broad range of clinical presenta
tions, which may be considered a spectrum of phenotypes with classic l
amellar ichthyosis at one pole and classic congenital ichthyosiform er
ythroderma at the other. The identification of mutations in the transg
lutaminase-1 gene as a cause of lamellar ichthyosis implicates transgl
utaminases in other congenital recessive ichthyoses. We investigated t
wo multiplex families with clinical manifestations between the two pol
es for linkage to the transglutaminase-1 locus on chromosome 14. Stron
gly negative lod scores prompted a search for linkage to two other epi
dermally expressed transglutaminases, transglutaminase-2 and transglut
aminase-1, on chromosome 20. No evidence for linkage was found. These
data confirm the hypothesis that the congenital recessive ichthyoses a
re genetically heterogeneous and in two families exclude two other tra
nsglutaminases that could be considered as candidate loci for at least
some of the nonlamellar recessive ichthyoses.