J. Fischer et al., Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity, AM J HU GEN, 66(3), 2000, pp. 904-913
Citations number
30
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Autosomal recessive ichthyosis (ARI) includes a heterogeneous group of diso
rders of keratinization characterized by desquamation over the whole body.
Two forms largely limited to the skin have been defined: lamellar ichthyosi
s (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). A first
gene for LI, transglutaminase TGM1, has been identified on chromosome 14,
and a second one has been localized on chromosome 2. In a genomewide scan o
f nine large consanguineous families, using homozygosity mapping, two new l
oci for ARI were found, one for a lamellar form in a 6-cM interval on chrom
osome 19 and a second for an erythrodermic form in a 7.7-cM interval on chr
omosome 3. Linkage to one of the four loci could be demonstrated in more th
an half of 51 consanguineous families, most of them from the Mediterranean
basin. All four loci could be excluded in the others, implying further gene
tic heterogeneity in this disorder. Multipoint Linkage analysis gave maxima
l LOD scores of 11.25 at locus D19S566 and 8.53 at locus D3SS564.