title: Lamellar ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus.
abstract: 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.
authors: CNRS URA 1922, Généthon, Evry, France.
authors: L
authors: L
authors: Parmentier
authors: C
authors: C
authors: Clepet
authors: O
authors: O
authors: Boughdene-Stambouli
authors: H
authors: H
authors: Lakhdar
authors: C
authors: C
authors: Blanchet-Bardon
authors: L
authors: L
authors: Dubertret
authors: E
authors: E
authors: Wunderle
authors: F
authors: F
authors: Pulcini
authors: C
authors: C
authors: Fizames
authors: J
authors: J
authors: Weissenbach
mesh_terms: D018244:Chromosomes, Artificial, Yeast; D002889:Chromosomes, Human, Pair 2; D005260:Female; D005353:Fibronectins / Q000235:genetics; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000235:genetics*; D008297:Male; D010375:Pedigree; D020161:Physical Chromosome Mapping
chemical_list: D005353:Fibronectins