Usher syndrome is an autosomal recessive disorder characterized by congenital hearing impairment and retinitis pigmentosa. Three clinical types are known (USH1, USH2 and USH3), and there is an extensive genetic heterogeneity, with at least ten genes implicated. The most frequently mutated genes are
Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome
✍ Scribed by C. Espinós; J. M. Millán; F. Sánchez; M. Beneyto; C. Nájera
- Publisher
- Springer
- Year
- 1998
- Tongue
- English
- Weight
- 70 KB
- Volume
- 102
- Category
- Article
- ISSN
- 0340-6717
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📜 SIMILAR VOLUMES
Usher syndrome type I is the most severe form of Usher syndrome. It is an autosomal recessive disorder characterized by profound congenital sensorineural deafness, retinitis pigmentosa, and vestibular abnormalities. Mutations in the myosin VIIA gene (MYO7A) are responsible for Usher syndrome type 1B
Mutations in the human gene encoding cadherin23 (CDH23) cause Usher syndrome type 1D (USH1D) and nonsyndromic hearing loss. Individuals with Usher syndrome type I have profound congenital deafness, vestibular areflexia and usually begin to exhibit signs of RP in early adolescence. In the present stu