caa a22 4500 397574789 CHVBK 20180308164852.0 cr unu---uuuuu 161202e199609 xx s 000 0 eng 10.1093/hmg/5.Supplement_1.1391 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.Supplement_1.1391 Dixon Michael J. School of Biological Sciences and Departments of Dental Medicine and Surgery, 3.239, Stopford Building, University of Manchester, Oxford Road, Manchester M13 9PT, UK Treacher Collins syndrome [Elektronische Daten] [Michael J. Dixon] Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. In the absence of a candidate gene, a positional cloning approach has been used to isolate the mutated gene which maps to chromosome 5q31.3-32. Flanking markers were identified and a yeast artificial chromosome and cosmid contig of the region defined by these markers was created as a prelude to the creation of a transcript map of the region. Analysis of genes isolated using this approach resulted in the identification of the mutated gene. While the function of the gene remains unknown, the identification of 20 mutations spread throughout the gene, all of which would result in the insertion of a premature termination codon into the reading frame, suggests that the mechanism underlying the disease is haploinsufficiency. © 1996 Oxford University Press Human Molecular Genetics Oxford University Press 5/Supplement_1(1996-09), 1391-1393 0964-6906 5:Supplement_1<1391 1996 5 hmg https://doi.org/10.1093/hmg/5.Supplement_1.1391 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.Supplement_1.1391 text/html Onlinezugriff via DOI NATIONALLICENCE 100 1- Dixon Michael J. School of Biological Sciences and Departments of Dental Medicine and Surgery, 3.239, Stopford Building, University of Manchester, Oxford Road, Manchester M13 9PT, UK NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/Supplement_1(1996-09), 1391-1393 0964-6906 5:Supplement_1<1391 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