January 1, 1999Human Mutation

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: Confirmation of genetic heterogeneity

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Population

34 unrelated Usher type I patients

Design

Other

Authors

Discussion

Adds novel MYO7A variants in Danish Usher syndrome type I cases; leaves open pathogenicity validation and diagnostic utility pending larger studies.

Population

34 unrelated Usher type I patients

Intervention

MYO7A gene analysis by single-strand conformation polymorphism analysis and direct sequencing

Outcome

Identification of MYO7A mutations

The identification of 12 novel MYO7A mutations in patients with Usher syndrome type I confirms the genetic heterogeneity of the disease.

Janecke et al. (1999) studied this question.

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Adds novel MYO7A variants in Danish Usher syndrome type I cases; leaves open pathogenicity validation and diagnostic utility pending larger studies.