Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.

A. Adato, Michael Weston, A. Berry, W. J. Kimberling, A. Bonne-Tamir

Research output: Contribution to journalArticle

30 Citations (Scopus)

Abstract

The Usher syndromes are autosomal recessive hereditary disorders characterized by hearing impairment and progressive visual loss due to Retinitis Pigmentosa (RP). Moderate to severe sensorineural hearing loss and progressive RP characterizes Usher syndrome type IIa (USH2A), which maps to the long arm of chromosome 1q41. Recently, three deletions carried by USH2 patients, which were found in a novel gene isolated from the critical 1q41 region, defined this gene as responsible for USH2A. The USH2A gene is predicted to encode a 1546 amino acid protein which possesses domains that are observed in basal lamina and extracellular matrix proteins and in cell adhesion molecules. Affected individuals and additional members from eleven USH2 Israeli families of diverse ethnic origin were screened for the presence of changes in all 20 coding exons of the USH2A gene. Three novel mutations (239-242insCGTA, R334W, T1515M) were identified in three families of Jewish Moroccan and Jewish Iranian origins. Twelve polymorphisms were found in the families, four of which are novel. None of the known USH2 mutations were identified in the families studied in this work. Hum Mutat 15:388, 2000.

Original languageEnglish
Pages (from-to)388
Number of pages1
JournalHuman Mutation
Volume15
Issue number4
StatePublished - Apr 2000
Externally publishedYes

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Usher Syndromes
Mutation
Retinitis Pigmentosa
Genes
Sensorineural Hearing Loss
Extracellular Matrix Proteins
Cell Adhesion Molecules
Hearing Loss
Basement Membrane
Exons
Chromosomes
Amino Acids
Proteins

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families. / Adato, A.; Weston, Michael; Berry, A.; Kimberling, W. J.; Bonne-Tamir, A.

In: Human Mutation, Vol. 15, No. 4, 04.2000, p. 388.

Research output: Contribution to journalArticle

Adato, A, Weston, M, Berry, A, Kimberling, WJ & Bonne-Tamir, A 2000, 'Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.', Human Mutation, vol. 15, no. 4, pp. 388.
Adato, A. ; Weston, Michael ; Berry, A. ; Kimberling, W. J. ; Bonne-Tamir, A. / Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families. In: Human Mutation. 2000 ; Vol. 15, No. 4. pp. 388.
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