Search results for "MYO7A"
showing 4 items of 4 documents
PDZD7 connects the Usher protein complex to the intraflagellar transport machinery
2015
Several Usher syndrome (USH)-associated proteins are known to localize to the connecting cilium of photoreceptor cells. The unconventional myosin MYO7A (USH1B) was long accepted as the transport molecule responsible for the ciliary localization of USH proteins. However, based on the typical location of several of the USH proteins along the ciliary axoneme, the involvement of the main ciliary trafficking machinery, intraflagellar transport (IFT), seems apparent. The USH-associated scaffold protein PDZD7 is known to interact with SANS, Usherin, GPR98 and Whirlin, all of which can be found in the connecting cilium. Here, we report that PDZD7 provides the physical link of the USH-protein networ…
Identification of three novel mutations in the MYO7A gene
1999
Three new mutations in the myosin VIIA gene involved in the pathogenesis of Usher syndrome type Ib are reported. These mutations are K1080X in exon 25, E1170K in exon 28, and Y1719C in exon 37. It is presumed that these mutations are involved in the Usher syndrome Ib phenotype. Hum Mutat 14:181, 1999. Copyright 1999 Wiley-Liss, Inc.
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.
2006
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 (USH1B). This gene is thought to bear greatest responsibility for USH1 and, depending on the study, has been reported to account for between 24% and 59% of USH1 cases. In this report a mutation screening of the MYO7A gene was carried out in a series of 48 unrelated USH1 families using single strand conformation polymorphism analysis (SSCP) and direct sequencing of those fragments showed an abnor…
Mutations in Myosin VIIA (MYO7A) and Usherin (USH2A) in Spanish patients with usher syndrome types I and II, respectively
2002
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 d…