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Mutations in Myosin VIIA (MYO7A) and Usherin (USH2A) in Spanish patients with usher syndrome types I and II, respectively

✍ Scribed by Carmen Nájera; Magdalena Beneyto; José Blanca; Elena Aller; Ana Fontcuberta; José María Millán; Carmen Ayuso

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
160 KB
Volume
20
Category
Article
ISSN
1059-7794

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✦ Synopsis

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 MYO7A, which causes USH1B, and usherin, which causes USH2A. We carried out a mutation analysis of these two genes in the Spanish population. Analysis of the MYO7A gene in patients from 30 USH1 families and sporadic cases identified 32% of disease alleles, with mutation Q821X being the most frequent. Most of the remaining variants are private mutations. With regard to USH2, mutation 2299delG was detected in 25% of the Spanish patients. Altogether the mutations detected in USH2A families account for 23% of the disease alleles.

📜 SIMILAR VOLUMES

Mutation profile of the MYO7A gene in Sp
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I
✍ T. Jaijo; E. Aller; S. Oltra; M. Beneyto; C. Nájera; C. Ayuso; M. Baiget; M. Car 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 178 KB 👁 1 views

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

Spectrum of USH2A mutations in Scandinav
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II
✍ Bo Dreyer; Vigdis Brox; Lisbeth Tranebjærg; Thomas Rosenberg; Andrè M. Sadeghi; 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 119 KB

## Communicated by Andreas Gal Usher syndrome type II (USH2) is an autosomal recessive disorder, characterised by moderate to severe high-frequency hearing impairment, normal balance function and progressive visual impairment due to retinitis pigmentosa. Usher syndrome type IIa, the most common su

Twelve novel myosin VIIA mutations in 34
Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: Confirmation of genetic heterogeneity
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Usher syndrome is a heterogeneous autosomal recessive trait and the most common cause of hereditary deaf-blindness. Usher syndrome type I (USH1) is characterised by profound congenital sensorineural hearing loss, vestibular dysfunction, and prepubertal onset of retinitis pigmentosa. Of the at least