Lamellar ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus

Eur J Hum Genet. 1999 Jan;7(1):77-87. doi: 10.1038/sj.ejhg.5200271.


Lamellar ichthyosis (LI) is an autosomal recessive genodermatosis which has been shown to be both clinically and genetically heterogeneous. Keratinocyte transglutaminase (or transglutaminase 1: TGM1) has been demonstrated to be the disease-causing gene in some families, whilst in others, a second unidentified LI gene was mapped to chromosome 2q33-35 (ICR2B locus). In this study, we present a physical map that encompasses the ICR2B locus, including the mapping of new microsatellite markers. Based on this new map, genotyping additional families highly suggests a reduction in size of the candidate interval. The final interval is covered by a single yeast artificial chromosome (937-H-3) which is 2.2Mb in length. Fine mapping of potential candidate transcripts was also focused on this region.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Artificial, Yeast
  • Chromosomes, Human, Pair 2*
  • Female
  • Fibronectins / genetics
  • Humans
  • Ichthyosis, Lamellar / genetics*
  • Male
  • Pedigree
  • Physical Chromosome Mapping*


  • Fibronectins