Molecular genetics of Usher syndrome

@article{Eudy1999MolecularGO,
  title={Molecular genetics of Usher syndrome},
  author={James D. Eudy and Janos Sumegi},
  journal={Cellular and Molecular Life Sciences CMLS},
  year={1999},
  volume={56},
  pages={258-267}
}
  • J. Eudy, J. Sumegi
  • Published 15 October 1999
  • Medicine, Biology
  • Cellular and Molecular Life Sciences CMLS
Abstract. The Usher syndrome, an autosomal recessive deafness and blindness, is genetically and clinically heterogeneous. In the past 4 years, genes mutated in Usher syndrome type Ib and type IIa have been described. The Usher Ib gene encodes the motor protein myosin VIIa and was identified as the human homolog of the mouse shaker-1 gene. The Usher type IIa gene was identified by positional cloning and encodes a protein with homology to extracellular matrix proteins and cell adhesion molecules… 

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  • 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.

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TLDR
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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

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TLDR
The results presented here provide a comprehensive picture of the genetic aetiology of Usher syndrome type IIA in Scandinavia as it is known to date.

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TLDR
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TLDR
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A syndrome in five brothers with the distinctive presentation of late‐onset progressive hearing loss, cataracts, retinitis pigmentosa, sperm motility and shape problems in a family from the Kurdish population in Iran is described.

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.

TLDR
The presence of pathogenic mutations in the novel exons indicates that at least one of the putative long isoforms of the USH2A protein plays a role in both hearing and vision.

MYO7A mutation screening in Usher syndrome type I patients from diverse origins

TLDR
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References

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TLDR
Clinical findings in the four affected children are consistent with established diagnostic criteria for Usher syndromes, and the location of the Ush1D gene was defined by the only region showing homozygosity by descent in the affected siblings.

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TLDR
Three biologically important mutations in Usher syndrome type IIa patients were identified in a gene (USH2A) isolated from this critical region of human chromosome 1q41 that has laminin epidermal growth factor and fibronectin type III motifs.

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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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