Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2

Am J Hum Genet. 2000 Mar;66(3):1132-7. doi: 10.1086/302813.


Autosomal recessive congenital ichthyosis (ARCI) is a rare, clinically and genetically heterogeneous genodermatosis. One gene (transglutaminase 1, on 14q11) and one additional locus (on 2q33-35, with an unidentified gene) have been shown to be associated with a lamellar, nonerythrodermic type of ARCI. We performed a genomewide scan, with 370 highly polymorphic microsatellite markers, on five affected individuals from one large Finnish family with nonerythrodermic, nonlamellar ARCI. The only evidence for linkage emerged from markers in a 6.0-cM region on chromosome 19p13.1-2. The maximum two-point LOD score of 7.33 was obtained with the locus D19S252, and multipoint likelihood calculations gave a maximum location score of 5.2. The affected individuals share two common core haplotypes, which makes compound heterozygosity possible. The novel disease locus is the third locus linked to ARCI, supporting previous evidence for genetic heterogeneity of ARCI. This is also the first locus for a nonlamellar, nonerythrodermic phenotype of ARCI.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Chromosome Mapping
  • Chromosomes, Human, Pair 19 / genetics*
  • Female
  • Finland
  • Genes, Recessive / genetics*
  • Genetic Heterogeneity
  • Haplotypes / genetics
  • Heterozygote
  • Humans
  • Ichthyosis / genetics*
  • Ichthyosis / pathology
  • Infant, Newborn
  • Likelihood Functions
  • Lod Score
  • Male
  • Microsatellite Repeats / genetics
  • Microscopy, Electron
  • Pedigree
  • Software