Deletion or triplication of the α3(VI) collagen gene in three patients with 2q37 chromosome aberrations and symptoms of collagen-related disorders |
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| Authors: | A. Rauch R. A. Pfeiffer U. Trautmann |
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| Affiliation: | Institut für Humangenetik der Friedrich-Alexander Universität Erlangen, Nürnberg, Germany |
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| Abstract: | Two new cases of del(2)(q37.1) and one case of partial trp(2)(q37) are studied by FISH with cosmid probes from the COL6A3 and PAX3 genes mapped in 2q37.3 and 2q36, respectively. While the PAX3 gene dosage appeared unaffected, the COL6A3 gene was found to be deleted and triplicated, respectively. This finding could explain features of connective tissue disorders such as joint laxity and hypotonia or joint stiffness and epiphyseal dysplasia, particularly documented by congenital dislocation of the radial head. Karyotype-phenotype correlations witii reference to published cases are discussed. |
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| Keywords: | chromosome 2 collagen type 6 deletion of 2q37 disorders of connective tissue epiphyseal dysplasia joint laxity joint stiffness MR/MA syndrome triplication of 2q37 |
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