Prenatal exclusion of stickler syndrome |
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| Authors: | Joel Zlotogora MD PhD Menachem Granat Robert G Knowlton |
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| Institution: | 1. Obstetrics and Gynecology, Hadassah Medical Center and the Hebrew University, Jerusalem, Israel;2. Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, U.S.A. |
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| Abstract: | Stickler syndrome is an autosomal dominant disorder of the connective tissue which includes ocular and systemic manifestations. We report on a large kindred in which we were able to demonstrate very tight linkage between the disease and the type II collagen gene (COL2A1) (LOD score 3·91 at θ=0). In a family in which the father and one of his daughters were severely affected, DNA analysis from a chorionic villus sample demonstrated that the fetus possessed the normal allele of COL2A1. Thereafter a normal child was born. |
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| Keywords: | COL2A1 linkage prenatal diagnosis Stickler syndrome |
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