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 2.2 Mb in length. Fine mapping of potential candidate transcripts was also focused on this region.
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Parmentier, L., Clepet, C., Boughdene-Stambouli, O. et al. Lamellar Ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus. Eur J Hum Genet 7, 77–87 (1999). https://doi.org/10.1038/sj.ejhg.5200271
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DOI: https://doi.org/10.1038/sj.ejhg.5200271