Inherited and de novo mutations in sporadic cases of DYT1-dystonia

Inherited and de novo mutations in sporadic cases of DYT1-dystonia

A study of Danish probands with primary torsion dystonia is presented. The probands were examined clinically and biochemically to exclude secondary dystonia. Mutation analyses for the GAG-deletion in the DYT1 gene were performed on 107 probands; and the mutation was detected in three. All three prob...

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Bibliographic Details
Published in:European journal of human genetics : EJHG Vol. 10; no. 3; pp. 213 - 216
Main Authors: Hjermind, Lena Elisabeth, Werdelin, Lene Moria, Sørensen, Sven Asger
Format: Journal Article
Language:English
Published: England Nature Publishing Group 01-03-2002
Subjects:
Carrier Proteins - genetics
Chromosomes
Clonal deletion
Denmark
DNA Mutational Analysis
Dystonia
Dystonia Musculorum Deformans - genetics
Family medical history
Female
Gene deletion
Genes
Genetic counselling
Genetics
Humans
Male
Molecular Chaperones
Mutation
Neurology
Patients
Pedigree
Phenotype
Phenotypes
Primary torsion dystonia
Proteins
Denmark
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Summary:A study of Danish probands with primary torsion dystonia is presented. The probands were examined clinically and biochemically to exclude secondary dystonia. Mutation analyses for the GAG-deletion in the DYT1 gene were performed on 107 probands; and the mutation was detected in three. All three probands had the classical phenotype of DYT1-dystonia, but only one had a family history of dystonia. The other two probands had, obviously, sporadic DYT1-dystonia, one of which was caused by a de novo mutation, while the other one had a parent being an asymptomatic carrier. De novo mutations in the DYT1 gene are seldom reported although independent founder mutations are known to have occurred. The frequency of DYT1-dystonia was low in our study even though several probands had early onset generalised dystonia. None of the probands in our study with other types of dystonia had the GAG-deletion as reported in other studies. The difficulties in genetic counselling concerning the heterogeneity of dystonia exemplified by DYT1-dystonia are outlined.
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ISSN:1018-4813
1476-5438
DOI:10.1038/sj.ejhg.5200782