A Second Gene for Autosomal Dominant Möbius Syndrome Is Localized to Chromosome 10q, in a Dutch Family

Möbius syndrome (MIM 157900) consists of a congenital paresis or paralysis of the VIIth (facial) cranial nerve, frequently accompanied by dysfunction of other cranial nerves. The abducens nerve is typically affected, and often, also, the hypoglossal nerve. In addition, orofacial and limb malformatio...

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Bibliographic Details
Published in:American journal of human genetics 1999-09, Vol.65 (3), p.752-756
Main Authors: Verzijl, H.T.F.M., van den Helm, B., Veldman, B., Hamel, B.C.J., Kuyt, L.P., Padberg, G.W., Kremer, H.
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chromosome 10
Chromosome Mapping
Chromosomes, Human, Pair 10 - genetics
Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction
Facial Paralysis - genetics
Facial paresis
Female
Genes, Dominant - genetics
Genetic Heterogeneity
Genetic Markers
Haplotypes
Heterogeneity
Heterozygote
Humans
Lod Score
Male
Medical sciences
Möbius syndrome
Nervous system (semeiology, syndromes)
Netherlands
Neurology
Pedigree
Penetrance
Phenotype
Polymorphism, Genetic
Recombination, Genetic - genetics
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Summary:Möbius syndrome (MIM 157900) consists of a congenital paresis or paralysis of the VIIth (facial) cranial nerve, frequently accompanied by dysfunction of other cranial nerves. The abducens nerve is typically affected, and often, also, the hypoglossal nerve. In addition, orofacial and limb malformations, defects of the musculoskeletal system, and mental retardation are seen in patients with Möbius syndrome. Most cases are sporadic, but familial recurrence can occur. Different modes of inheritance are suggested by different pedigrees. Genetic heterogeneity of Möbius syndrome has been suggested by cytogenetic studies and linkage analysis. Previously, we identified a locus on chromosome 3q21-22, in a large Dutch family with Möbius syndrome consisting essentially of autosomal dominant asymmetric bilateral facial paresis. Here we report linkage analysis in a second large Dutch family with autosomal dominant inherited facial paresis. After exclusion of >90% of the genome, we identified the locus on the long arm of chromosome 10 in this family, demonstrating genetic heterogeneity of this condition. The reduced penetrance suggests that at least some of the sporadic cases might be familial.
ISSN:0002-9297
1537-6605
DOI:10.1086/302539