caa a22 4500 397573650 CHVBK 20180308164848.0 cr unu---uuuuu 161202e199609 xx s 000 0 eng 10.1093/hmg/5.9.1367 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.9.1367 Localization of a Gene for Möbius Syndrome to Chromosome 3q by Linkage Analysis in a Dutch Family [Elektronische Daten] [Hannie Kremer, Lambertus P. Kuyt, Bellinda van den Helm, Margo van Reen, Jack A. M. Leunissen, Ben C. J. Hamel, Cees Jansen, Edwin C. M. Mariman, Rune R. Frants, George W. Padberg] Möbius syndrome (MIM no. 157900) consists of a congenital pares is or paralysis of the viith ci anial nerve, frequently accompanied by paralysis of other cranial nerves, orofacial and limb malformations, defects of the musculoskeletal system and mental retardation. Although most patients are sporadic cases, familial recurrence is not rare. Different pedigrees suggest different modes of inheritance. We performed linkage analysis in a large family with autosomal dominantly inherited Möbius syndrome, consisting essentially of asymmetric bilateral facial pareses. After exclusion of the candidate region for Möbius syndrome on 13q12.2-q13, we localized the gene to chromosome 3q21-22, indicating genetic heterogeneity of Möbius syndrome. This heterogeneity is further proven by the exclusion of both loci in a second family with Möbius syndrome. © 1996 Oxford University Press Kremer Hannie Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands aut Kuyt Lambertus P. Department of Human Genetics, Free University, Amsterdam, The Netherlands aut van den Helm Bellinda Department of Neurology, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands aut van Reen Margo Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands aut Leunissen Jack A. M. Caos Camm Center, Nijmegen, The Netherlands aut Hamel Ben C. J. Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands aut Jansen Cees Hospital Gelderse Vallei, Bennekom, The Netherlands aut Mariman Edwin C. M. Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands aut Frants Rune R. MGC-Department of Human Genetics, Leiden University, Leiden, The Netherlands aut Padberg George W. Department of Neurology, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands aut Human Molecular Genetics Oxford University Press 5/9(1996-09), 1367-1371 0964-6906 5:9<1367 1996 5 hmg https://doi.org/10.1093/hmg/5.9.1367 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.9.1367 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kremer Hannie Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Kuyt Lambertus P. Department of Human Genetics, Free University, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- van den Helm Bellinda Department of Neurology, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- van Reen Margo Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Leunissen Jack A. M. Caos Camm Center, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Hamel Ben C. J. Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Jansen Cees Hospital Gelderse Vallei, Bennekom, The Netherlands aut NATIONALLICENCE 700 1- Mariman Edwin C. M. Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Frants Rune R. MGC-Department of Human Genetics, Leiden University, Leiden, The Netherlands aut NATIONALLICENCE 700 1- Padberg George W. Department of Neurology, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/9(1996-09), 1367-1371 0964-6906 5:9<1367 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