caa a22 4500 397573596 CHVBK 20180308164848.0 cr unu---uuuuu 161202e199604 xx s 000 0 eng 10.1093/hmg/5.4.543 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.4.543 The Gene Responsible for Clouston Hidrotic Ectodermal Dysplasia Maps to the Pericentromeric Region of Chromosome 13q [Elektronische Daten] [Zoha Kibar, Vazken M. Der Kaloustian, Bernard Brais, Valerie Hani, F. Clarke Fraser, Guy A. Rouleau] Hidrotic ectodermal dysplasia (HED), Clouston type, is an autosomal dominant skin disorder which is most common in the French-Canadian population and is characterized by hair defects, nail dystrophy and palmoplantar hyperkeratosis. Biophysical and biochemical studies conducted in HED suggested a molecular abnormality of keratins. We tested eight French-Canadian families segregating HED for linkage to microsatellite markers flanking the known keratin genes and were able to exclude linkage to these loci. Therefore, a genome-wide search for the HED gene was initiated. The first lod score above 3.00 was obtained with the marker D13S175 located in the pericentromeric region of chromosome 13q (Zmax = 8.12 at zero recombination). The cumulative lod scores were above 3.00 for six other markers in the region. A multipoint linkage analysis using the markers D13S175, D13S141 and D13S143 gave a maximum lod score of 11.12 at D13S141 with the one-lod-unit support interval spanning a 12.7 cM region which includes D13S175 and D13S141. Haplotype analysis allowed us to establish D13S143 as the telomeric flanking marker for the HED candidate region. © 1996 Oxford University Press Kibar Zoha Centre for Research in Neurosciences, the Montreal General Hospital, 1650 Cedar Avenue, Montréal, Québec H3G 1A4, Canada aut Der Kaloustian Vazken M. F. Clarke Fraser Clinical Genetics Unit, Division of Medical Genetics, the Montreal Children's Hospital, McGill University, 2300 Tupper Street, Montréal, Québec H3H 1P3, Canada aut Brais Bernard Centre for Research in Neurosciences, the Montreal General Hospital, 1650 Cedar Avenue, Montréal, Québec H3G 1A4, Canada aut Hani Valerie Centre for Research in Neurosciences, the Montreal General Hospital, 1650 Cedar Avenue, Montréal, Québec H3G 1A4, Canada aut Fraser F. Clarke F. Clarke Fraser Clinical Genetics Unit, Division of Medical Genetics, the Montreal Children's Hospital, McGill University, 2300 Tupper Street, Montréal, Québec H3H 1P3, Canada aut Rouleau Guy A. Centre for Research in Neurosciences, the Montreal General Hospital, 1650 Cedar Avenue, Montréal, Québec H3G 1A4, Canada aut Human Molecular Genetics Oxford University Press 5/4(1996-04), 543-547 0964-6906 5:4<543 1996 5 hmg https://doi.org/10.1093/hmg/5.4.543 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.4.543 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kibar Zoha Centre for Research in Neurosciences, the Montreal General Hospital, 1650 Cedar Avenue, Montréal, Québec H3G 1A4, Canada aut NATIONALLICENCE 700 1- Der Kaloustian Vazken M. F. Clarke Fraser Clinical Genetics Unit, Division of Medical Genetics, the Montreal Children's Hospital, McGill University, 2300 Tupper Street, Montréal, Québec H3H 1P3, Canada aut NATIONALLICENCE 700 1- Brais Bernard Centre for Research in Neurosciences, the Montreal General Hospital, 1650 Cedar Avenue, Montréal, Québec H3G 1A4, Canada aut NATIONALLICENCE 700 1- Hani Valerie Centre for Research in Neurosciences, the Montreal General Hospital, 1650 Cedar Avenue, Montréal, Québec H3G 1A4, Canada aut NATIONALLICENCE 700 1- Fraser F. Clarke F. Clarke Fraser Clinical Genetics Unit, Division of Medical Genetics, the Montreal Children's Hospital, McGill University, 2300 Tupper Street, Montréal, Québec H3H 1P3, Canada aut NATIONALLICENCE 700 1- Rouleau Guy A. Centre for Research in Neurosciences, the Montreal General Hospital, 1650 Cedar Avenue, Montréal, Québec H3G 1A4, Canada aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/4(1996-04), 543-547 0964-6906 5:4<543 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