caa a22 4500 397575920 CHVBK 20180308164856.0 cr unu---uuuuu 161202e199604 xx s 000 0 eng 10.1093/hmg/5.4.555 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.4.555 Mapping of a Second Locus for Lamellar Ichthyosis to Chromosome 2q33-35 [Elektronische Daten] [Laurent Parmentier, Hakima Lakhdar, Claudine Blanchet-Bardon, Sylvie Marchand, Louis Dubertret, Jean Weissenbach] Lamellar ichthyosis (LI) is an inherited autosomal recessive disorder of cornification. It was recently demonstrated to result from deleterious mutations in the transglutaminase 1 (TGM1) gene. However, the disease was shown to be genetically heterogeneous, since some families were found to be unlinked to TGM1. Homozygosity mapping on three consanguinous families originating from Morocco shows (i) absence of linkage with TGM1 and other regions of the genome containing genes involved in cornification, and (ii) location of a second disease-causing gene on chromosome 2q33-35. A maximum two-point lodscore of 7.60 was obtained with D2S157 for θ=0. The analysis of recombination events places the gene within a 7-8 cM interval. Additional consanguinous pedigrees were also demonstrated to be unlinked both to TGM1 and to 2q33-35, suggesting the existence of at least a third disease-causing gene. © 1996 Oxford University Press Parmentier Laurent CNRS URA 1922, Généthon, 1 rue de l'Internationale, 91000 Evry, France aut Lakhdar Hakima Service de Dermatologie, Centre Hospitalier Universitaire Averoes, Casablanca, Morocco aut Blanchet-Bardon Claudine Institut de Recherche sur la Peau, Hôpital Saint-Louis, 1 avenue Claude Vellefeaux, 75010 Paris, France aut Marchand Sylvie CNRS URA 1922, Généthon, 1 rue de l'Internationale, 91000 Evry, France aut Dubertret Louis Institut de Recherche sur la Peau, Hôpital Saint-Louis, 1 avenue Claude Vellefeaux, 75010 Paris, France aut Weissenbach Jean CNRS URA 1922, Généthon, 1 rue de l'Internationale, 91000 Evry, France aut Human Molecular Genetics Oxford University Press 5/4(1996-04), 555-559 0964-6906 5:4<555 1996 5 hmg https://doi.org/10.1093/hmg/5.4.555 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.4.555 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Parmentier Laurent CNRS URA 1922, Généthon, 1 rue de l'Internationale, 91000 Evry, France aut NATIONALLICENCE 700 1- Lakhdar Hakima Service de Dermatologie, Centre Hospitalier Universitaire Averoes, Casablanca, Morocco aut NATIONALLICENCE 700 1- Blanchet-Bardon Claudine Institut de Recherche sur la Peau, Hôpital Saint-Louis, 1 avenue Claude Vellefeaux, 75010 Paris, France aut NATIONALLICENCE 700 1- Marchand Sylvie CNRS URA 1922, Généthon, 1 rue de l'Internationale, 91000 Evry, France aut NATIONALLICENCE 700 1- Dubertret Louis Institut de Recherche sur la Peau, Hôpital Saint-Louis, 1 avenue Claude Vellefeaux, 75010 Paris, France aut NATIONALLICENCE 700 1- Weissenbach Jean CNRS URA 1922, Généthon, 1 rue de l'Internationale, 91000 Evry, France aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/4(1996-04), 555-559 0964-6906 5:4<555 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford