Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

@article{Weston2000GenomicSA,
  title={Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.},
  author={Michael D. Weston and James D. Eudy and Sanae Fujita and Shun Yao and Shin‐ichi Usami and Cor W.R.J. Cremers and Jacquie L Greenberg and R. S. Ramesar and Alessandro Martini and C Moller and R J Smith and Janos Sumegi and William J. Kimberling},
  journal={American journal of human genetics},
  year={2000},
  volume={66 4},
  pages={
          1199-210
        }
}
Usher syndrome type IIa (USHIIa) is an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa. This disorder maps to human chromosome 1q41. Recently, mutations in USHIIa patients were identified in a novel gene isolated from this chromosomal region. The USH2A gene encodes a protein with a predicted molecular weight of 171.5 kD and possesses laminin epidermal growth factor as well as fibronectin type III domains. These… 
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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.

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.

Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II

The results indicate that the long isoform of USH2A may harbor even more mutations of the USH1A gene than previously thought, and broaden the spectrum of USh2A mutations.

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

Considering only the patients clearly diagnosed with Usher syndrome type II, and results obtained in this and previous studies, this report can state that mutations in USH2A are responsible for 76.1% of USH 2 disease in patients of Spanish origin.

Spectrum of mutations in USH2A in British patients with Usher syndrome type II.

The results indicate that mutations in this gene are responsible for disease in a large proportion of British Usher type II patients, and if screening for mutations in USH2A is considered, it is sensible to screen for the del2299G mutation first.

Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II

The data support the fact that c.2299delG/p.E767fs is indeed the most common USH2A mutation found in USH1 patients of European Caucasian background, and it is reasonable to screen for this mutation first if screening for mutations in USh2A is considered.

Genetic analysis of a four generation Indian family with Usher syndrome: a novel insertion mutation in MYO7A.

DNA sequence analysis of the entire coding region of the MYO7A gene showed a novel insertion mutation c.2663_2664insA in a homozygous state in all affected individuals, resulting in truncation of MYO 7A protein.

The USH2A c.2299delG mutation: dating its common origin in a Southern European population

The data confirm the common ancestral origin of the c.2299delG mutation and suggest that the major source of variability in the USH2A gene is recombination.

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

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, and most of the remaining variants are private mutations.

Molecular and in silico analyses of the full‐length isoform of usherin identify new pathogenic alleles in Usher type II patients

A previously unrecognized Cysteine rich structural domain is identified, containing 12 dicysteine repeats, and it is shown that three missense mutations result in the loss of one of a pair of the defining cysteine‐cysteine pairs.

Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa

At least one mutation was identified in 57–63% of USH2 cases and 19–23% of cases of non-syndromic recessive RP (calculated without and including probable/possible deleterious changes) thus supporting that USH 2A is the most common known cause of RP in the USA.
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