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… 
Genetics and pathological mechanisms of Usher syndrome
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  • 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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It is believed that molecular genetic investigations will enable early diagnostics of the syndrome and help in finding effective treatment of USH.
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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
Understanding clinical disease progression and molecular pathways is important in the progress towards developing gene therapy to prevent blindness due to Usher syndrome as well as delivering prognostic information to affected individuals.
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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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  • 2000
TLDR
Molecular understanding of the etiology of the disorder may lead to a cure or delay the onset of the disorders, and environmental factors and interacting genes in producing the clinical outcome are emphasized.
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TLDR
The Usher interactome participates in pathways common in inner ear and retina that are disrupted in the Usher syndrome, and can be linked to the cadherins/catenins in the adherens junction-associated protein complexes, suggesting a role in cell polarity and tissue organization.
Novel syndrome of cataracts, retinitis pigmentosa, late onset deafness and sperm abnormalities: A new Usher syndrome subtype with X‐linked inheritance?
TLDR
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
Three clinical types of Usher syndrome have been defined according to the severity of hearing impairment, age of retinitis pigmentosa onset and the presence or absence of vestibular response, and the MYO7A gene was found to be responsible for USH1B6 and is the most common subtype of USH2.
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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.
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
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
As progress towards the identification of theUsher genes is made, the clinician will gradually gain new and effective diagnostic procedures for the identification and delineation of the Usher syndromes.
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TLDR
Evidence is presented that a gene encoding myosin VIIA is responsible for USH1B and that USH IB appears as a primary cytoskeletal protein defect, which implicate the genes encoding other unconventional myosins and their interacting proteins as candidates for other genetic forms of Usher syndrome.
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TLDR
This unlinked family may represent a previously unreported subtype of Usher type II characterised by a milder form of retinitis pigmentosa and mild vestibular abnormalities.
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TLDR
To determine how frequently Usher IIa,Usher IIb, and Usher III occur in a clinical population of non-Usher I patients, DNA was collected from 29 Dutch families and genotyped with six DNA markers known to flank the USH2a gene closely, and with five markers that flank USH3.
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TLDR
The genomic organization of the human myosin VIIa gene (MYO7A) is reported, spanning approximately 120 kb of genomic DNA on chromosome 11q13, and the largest transcript contains 49 exons.
Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity.
TLDR
A panel of 29 individuals from 6 kindreds with Usher syndrome type I has been tested for possible allelism at the D1S81 locus and different results support the view that the clinical heterogeneity in Usher Syndrome is accounted for by an obvious genetic heterogeneity.
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