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© 1995 Oxford University Press

OTHER

Localization of the Schwartz–Jampel syndrome (SJS) locus to chromosome 1p34–p36.1 by homozygosity mapping

Sophie Nicole, Christiane Ben Hamida1, Peter Beighton2, Selim Bakouri3, Samir Belal1, Norma Romero4, Denis Viljoen2, Gérard Ponsot5, Azza Sammoud6, Jean Weissenbach7, Michel Fardeau8, Mongi Ben Hamida1, Bertrand Fontaine* and Fayçal Hentati1

1Institut National de Neurologie Tunis, Tunisia 2Department of Human Genetics, University of Cape Town, Cape Town South Africa 3Division de Pédiatrie, CHU Beni-Messous Alger, Algeria 4Laboratoire de Pathologie Neuromusculaire, Hôpital Robert Debré France 5Service de Neuropédiatrie, Hôpital Saint Vincent de Paul Paris, France 6Service de Pédiatrie, Hôpital La Rabta Tunis, Tunisia 7Généthon Evry, France 8INSERM U153, Hôpital de la Salpêtrière 75013 Paris, France

*To whom correspondence should be addressed

Received April 20, 1995; Accepted June 2, 1995

Schwartz-Jampel syndrome (SJS, MIM 255800 [OMIM] ), also known as chondrodystrophic myotonia, is a rare autosomal recessive disorder characterized by generalized myotonia, skeletal abnormalities and facial dysmorphism. Using homozygosity mapping, we localized the SJS locus to chromosome 1p34–p36. 1 in a 8 cM interval flanked by markers D1S199 and D1S234. Families of different ethnic backgrounds (Tunisia and South Africa) showed genetic linkage to the same locus. Morever, one Algerian family also demonstrated evidence of genetic linkage to 1p34–p36.1. Taken altogether, our results suggest genetic homogeneity, at least in the group of families analyzed.


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