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DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE; DYT17

DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE; DYT17

Cytogenetic location: 20p11.2-q13.12 Genomic coordinates (GRCh38): 20:22,300,000-47,800,000▼ Clinical FeaturesChouery et al. (2008) reported a large consangu...

Cytogenetic location: 20p11.2-q13.12 Genomic coordinates (GRCh38): 20:22,300,000-47,800,000

▼ Clinical Features
Chouery et al. (2008) reported a large consanguineous Lebanese family in which 3 sisters had primary focal torsion dystonia beginning with torticollis at ages 17, 19, and 14 years, respectively. Two or 3 years later, the symptoms spread, causing segmental dystonia for 2 patients and generalized dystonia for the third. At the time of examination, when the sisters were in their thirties, all had severe dysphonia and dysarthria. There were no signs of parkinsonism. Brain MRI showed no specific abnormalities.

▼ Mapping
By genomewide linkage analysis of a Lebanese family with primary dystonia, Chouery et al. (2008) found significant linkage to a 20.5-Mb interval on chromosome 20p11.2-q13.12 between markers D20S472 and D20S911, which they termed DYT17. A maximum 2-point lod score of 2.4 was obtained at D20S107, and multipoint linkage analysis gave a maximum lod score of 3.1 at several markers. Sequence analysis excluded pathogenic changes in the EPB41L1 (602879), SLC32A1 (616440), and SSTR4 (182454) genes.

Tags: 20q13.12, 20p11.2