Human Molecular Genetics, Vol 5, 1367-1371, Copyright © 1996 by Oxford University Press
H Kremer, LP Kuyt, B van den Helm, M van Reen, JA Leunissen, BC Hamel, C Jansen, EC Mariman, RR Frants and GW Padberg
Mobius syndrome (MIM no. 157900) consists of a congenital paresis or
paralysis of the VIIth cranial 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 Mobius syndrome,
consisting essentially of asymmetric bilateral facial pareses. After
exclusion of the candidate region for Mobius syndrome on 13q12.2-q13, we
localized the gene to chromosome 3q21-22, indicating genetic heterogeneity
of Mobius syndrome. This heterogeneity is further proven by the exclusion
of both loci in a second family with Mobius syndrome.
ARTICLES
Localization of a gene for Mobius syndrome to chromosome 3q by linkage analysis in a Dutch family
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
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