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Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p,evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval |
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| Authors: | B Fontaine Sophie Nicole Haluk Topaloglu C Ben Hamida Peter Beighton Frank Spaans Jose M A Cantu Salim Bakouri Norma Romero K Ricker Patricio Barros-Nunez Gérard Ponsot M Ben Hamida Jean Weissenbach F Hentati Frank Lehmann-Horn |
| Institution: | Fédération de Neurologie and INSERM U134, H?pital de la Salpêtrière, 47 boulevard de l’H?pital, F-75651 Paris cédex 13, France Tel.: +331-42-16-21-45; Fax: +331-45-84-80-08, FR Hacettepe University, Faculty of Medicine, Ankara, Turkey, TR Institut National de Neurologie, Tunis, Tunisia, Department of Human Genetics, University of Cape Town, Cape Town, South Africa, ZA Department of Clinical Neurophysiology, University of Limburg, Maastricht, The Netherlands, NL Centro de Investigaciones Biomedicas De Occidente, Guadalajara, Mexico, MX Division de Pédiatrie, CHU Beni-Messous, Alger, Algeria, DZ Assistance Publique, H?pitaux de Paris, Paris, France, FR University of Ulm, Ulm, Germany, DE Généthon, Evry, France, FR |
| Abstract: | Schwartz-Jampel syndrome (SJS), or chondrodystrophic myotonia, is a rare autosomal recessive disorder characterized by generalized myotonia resulting in a particular, recognizable facies and osteoarticular abnormalities. Some of us have recently shown genetic linkage of SJS to a locus on 1p34–p36.1 in five families. Here, we show by homozygosity mapping and segregation analysis that eight new families are most likely linked to the SJS locus on chromosome 1, confirming the localization of SJS to chromosome 1p and suggesting genetic homogeneity. Recombination events reduced the SJS locus from a genetic interval of 8 to 3 cM, which should facilitate the identification of the SJS gene. Low clinical variability was observed between the studied families, except for osteoarticular abnormalities. Since the severity and the location of osteoarticular abnormalities varied from one individual to another, even in the same families, other factors than the SJS gene itself, genetic or epigenetic, might contribute to the phenotype. Received: 11 February 1996 / Revised: 6 April 1996 |
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