A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome

@article{Kalay2005AND,
  title={A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome},
  author={Ersan Kalay and Arjan Pm de Brouwer and Refik Çaylan and Sander B. Nabuurs and Bernd Wollnik and A. Tugay Karaguzel and J G Heister and Hidayet Erdol and Frans P. M. Cremers and Cwrj Cremers and Han G. Brunner and Hannie Kremer},
  journal={Journal of Molecular Medicine},
  year={2005},
  volume={83},
  pages={1025-1032}
}
Homozygosity mapping and linkage analysis in a Turkish family with autosomal recessive prelingual sensorineural hearing loss revealed a 15-cM critical region at 17q25.1–25.3 flanked by the polymorphic markers D17S1807 and D17S1806. The maximum two-point lod score was 4.07 at θ=0.0 for the marker D17S801. The linkage interval contains the Usher syndrome 1G gene (USH1G) that is mutated in patients with Usher syndrome (USH) type 1g and encodes the SANS protein. Mutation analysis of USH1G led to… 
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TLDR
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TLDR
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TLDR
The data indicate that mutations of CEP250 can cause mild CRD and SNHL in Japanese patients, and high-resolution retinal imaging analysis, such as AO, will be helpful in diagnosing CEP 250-associated disease.
Screening of the USH1G Gene among Spanish Patients with Usher Syndrome. Lack of Mutations and Evidence of a Minor Role in the Pathogenesis of the Syndrome
The Usher syndrome (USH) is an autosomal recessive hereditary disorder characterized by the association of sensorineural hearing loss, retinitis pigmentosa (RP) and, in some cases, vestibular
Genetics and pathological mechanisms of Usher syndrome
  • D. YanX. Liu
  • Biology, Medicine
    Journal of Human Genetics
  • 2010
TLDR
A unifying hypothesis is that the USH proteins are integrated into a protein network that regulates hair bundle morphogenesis in the inner ear, which is important toward discovery of new molecular targets for diagnosis, prevention and treatment of this debilitating disorder.
Usher Syndrome: Genetics of a Human Ciliopathy
TLDR
The genetics of Usher syndrome and the spectrum of mutations in USH genes are reviewed to identify possible mutation associations with the disease and provide an updated genotype–phenotype correlation.
Predicting candidate genes for human deafness disorders: a bioinformatics approach
TLDR
A list of strong candidate genes encoded by the regions linked to various nonsyndromic hereditary hearing loss phenotypes are established by using a novel bioinformatic approach and provide a starting point for mutational analysis in well-characterized families.
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