Journal Article

Localization of a Gene for Möbius Syndrome to Chromosome 3q by Linkage Analysis in a Dutch Family

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 and George W. Padberg

in Human Molecular Genetics

Volume 5, issue 9, pages 1367-1371
Published in print September 1996 | ISSN: 0964-6906
e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/5.9.1367
Localization of a Gene for Möbius Syndrome to Chromosome 3q by Linkage Analysis in a Dutch Family

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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.

Journal Article.  2976 words.  Illustrated.

Subjects: Genetics and Genomics

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