Fine mapping of X-linked clasped thumb and mental retardation (MASA syndrome) in Xq28 |
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| Authors: | E. Legius L. Kaepernick J. V. Higgins T. W. Glover |
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| Affiliation: | University of Michigan, Department of Pediatric Genetics, Ann Arbor, Michigan, USA;Centre for Human Genetics, Leuven, Belgium;Michigan State University, Department of Pediatrics, USA |
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| Abstract: | The MASA syndrome is an X-linked disorder with mental retardation, spastic paraparesis, and adducted thumbs as the most characteristic features. We performed linkage analysis, using Xq28 markers, on a large MASA syndrome family. The maximum lodscore was 6.37 at 0 recombination for DXS52 and 5.99 at 0 recombination for DXS305. Crossovers were demonstrated between the disorder and DXS455. Clinical and linkage data from this family further support the hypothesis that the MASA syndrome and X-linked hydrocephalus are allelic disorders. |
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| Keywords: | carrier detection HSAS L1CAM linkage analysis MASA syndrome X-linked hydrocephalus |
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