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Cited by 70Retinal Development and DisordersHearing, Cochlea, Tinnitus, GeneticsGenetic and Kidney Cyst Diseases

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

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Jaijo, T, Aller, E, Beneyto, M, Najera, C, Graziano, C, Turchetti, D, Seri, M, Ayuso, C +5 more·2007·Journal of Medical Genetics
DOI 10.1136/jmg.2006.045377PMC PMC2598023
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Abstract

Usher syndrome (USH) (OMIM 276901) is an autosomal recessive disorder characterised by hearing impairment associated with retinitis pigmentosa and in some cases vestibular dysfunction. This disease accounts for approximately 50% of individuals with combined deafness and blindness in developed countries. The estimated prevalence of USH ranges from 3.8 to 6.2/100 000.1–3 Phenotypically, 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. Usher syndrome type I (USH1) is the most serious type, characterised by severe to profound congenital sensorineural hearing loss, balance deficiency and prepubertal onset of retinitis pigmentosa leading to blindness. USH2 is characterised by moderate to severe hearing impairment, normal vestibular function and later onset of retinal degeneration than USH1. USH3 displays progressive hearing loss, retinitis pigmentosa and variable vestibular phenotype. Six loci for USH1 (USH1B–USH1G) have been mapped and, to date, five genes have been identified.4,5 The MYO7A gene was found to be responsible for USH1B6 and is the most common subtype of USH1, accounting for approximately 50% of cases.7–9 Defects in MYO7A also cause autosomal dominant non-syndromic sensorineural hearing impairment (DFNA11) (MIM 601317),10 autosomal recessive deafness (DFNB2) (MIM 600060)11,12 as well as atypical types of Usher syndrome which are clinically similar to USH3.13 The MYO7A gene has 49 exons, of which 48 are coding, and spans approximately 87 kb of genomic sequence on chromosome 11q13.5. The encoded protein is an unconventional myosin, the myosin VIIA,14 predicted to consist of 2215 amino acids and has a molecular mass of 254 kDa. This protein contains three typical domains: the N terminal head or motor; the neck or regulatory domain consisting of five IQ motifs; and the tail …

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Research works printed but not linked: 26

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Authors
Jaijo, T., Aller, E., Beneyto, M., Najera, C., Graziano, C., Turchetti, D., Seri, M., Ayuso, C., Baiget, M., Moreno, F., Morera, C., Perez-Garrigues, H., & Millan, J. M.
Affiliations
  • Hospital Universitari i Politècnic La Fe (ES)
  • IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola (IT)
  • Hospital de Sant Pau (ES)
  • Hospital Universitario Ramón y Cajal (ES)
ORCID
Venue
Journal of Medical Genetics
Publisher
BMJ
Published
2007-03
Volume
44
Issue
3
Pages
e71-e71
ISSN
  • 0022-2593 (ISSN-L)
  • 1468-6244
DOI
10.1136/jmg.2006.045377
PMC
PMC2598023
OpenAlex
W2157368769
Cited by
70
References
0
Citations by year
2026: 3 · 2025: 5 · 2024: 4 · 2023: 4 · 2022: 7 · 2021: 11 · 2020: 2 · 2019: 1 · 2018: 3 · 2017: 5 · 2016: 6 · 2014: 4 · 2013: 5 · 2012: 2
FWCI
0.66
Type
journal article
Language
en
Open access
Locations
  • Journal of Medical Genetics (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna) (submittedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
  • Life Sciences › Neuroscience › Sensory Systems › Hearing, Cochlea, Tinnitus, Genetics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
Keywords
Usher syndrome type I, MYO7A, mutation detection, retinitis pigmentosa, sensorineural hearing loss, vestibular dysfunction, autosomal recessive inheritance
MeSH terms
Myosin VIIa, Amino Acid Sequence, DNA Mutational Analysis, Dyneins, Female, Humans, Italy, Male, Molecular Sequence Data, Morocco, Mutation, Myosins, Pedigree, Spain, Turkey, Mutagenesis, Insertional, Sequence Alignment, Point Mutation, Sequence Deletion, Sequence Homology, Amino Acid, Czech Republic, Codon, Nonsense, Polymorphism, Single-Stranded Conformational, Tandem Repeat Sequences, Mutation, Missense, RNA Splice Sites, Usher Syndromes

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