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, 7 (1), 77-87

Lamellar Ichthyosis: Further Narrowing, Physical and Expression Mapping of the Chromosome 2 Candidate Locus

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Lamellar Ichthyosis: Further Narrowing, Physical and Expression Mapping of the Chromosome 2 Candidate Locus

L Parmentier et al. Eur J Hum Genet.

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.

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