Clinical and genetic studies in Spanish patients with Usher syndrome type II: Description of new mutations and evidence for a lack of genotype-phenotype correlation

Clinical Genetics

Volumn 68, Issue 3, 2005, Pages 204-214

  Bernal, S ^a   Meda C ^a   Solans, T ^a   Ayuso, C ^b   Garcia Sandoval, B ^b   Valverde, D ^c   Del Rio, E ^a   Beiget, M ^a  

^a HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^b Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^c UNIVERSITY OF VIGO   (Spain)

Author keywords

Hearing loss; USH2A gene mutations; Usher syndrome type II

Indexed keywords

ADULT; AGED; ALLELE; ARTICLE; CLINICAL ARTICLE; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEARING LOSS; HUMAN; HUMAN GENOME; MALE; MEDICAL EXAMINATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SPAIN; USH2A GENE; USHER SYNDROME; USHER SYNDROME TYPE II; VESTIBULAR SYSTEM;

ADULT; CHILD; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; FRAMESHIFT MUTATION; GENE FREQUENCY; GENOTYPE; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MUTATION; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC; RETINITIS PIGMENTOSA; SPAIN; SYNDROME;

EID: 23844543556     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2005.00481.x     Document Type: Article

References (35)

1. Smith RJ, Berlin CI, Hejtmancik JF et al. Clinical diagnosis of the Usher syndromes. Usher syndrome consortium. Am J Med Genet 1994: 50: 32-38.
2. Kimberling WJ, Möller C. Clinical and molecular genetics of Usher syndrome. J Am Acad Audiol 1995: 6: 63-72.
3. Hope CI, Bundey S, Proops D, Fielder AR. Usher syndrome in the city of Birmingham-prevalence and clinical classification. Br J Ophthalmol 1997: 81: 46-53.
4. Rosenberg T, Haim M, Hauch AM, Parving A. The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations. Clin Genet 1997: 51: 314-321.
5. Weston MD, Eudy JD, Fujita S et al. Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. Am J Hum Genet 2000: 66: 1199-1210.
6. Eudy JD, Weston MD, Yao S et al. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science 1998: 280: 1753-1757.
7. Bhattacharya G, Miller C, Kimberling WJ, Jablonski MM, Cosgrove D. Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa. Hear Res 2002: 163: 1-11.
8. Pearsall N, Bhattacharya G, Wisecarver J, Adams J, Cosgrove D, Kimberling W. Usherin expression is highly conserved in mouse and human tissues. Hear Res 2002: 174: 55-63.
9. Bhattacharya G, Kalluri R, Orten DJ, Kimberling WJ, Cosgrove D. A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure. J Cell Sci 2004: 117: 233-242.
10. Pennings RJ, Te Brinke H, Weston MD et al. USH2A mutation analysis in 70 Dutch families with Usher syndrome type II. Hum Mutat 2004: 24: 185.
11. Van Wijk E, Pennings RJ, te Brinke H et al. 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. Am J Hum Genet 2004: 74: 738-744.
12. Marmor MF, Zrenner E. Standard for clinical electroretinography. International Society for Clinical Electrophysiology of Vision (ISCEV). Doc Ophthalmol 1998-99: 97 (2): 143-156.
13. International Organisation for Standardization. 1989. Acoustics-Audiometric Test Methods Part 1: Basic Pure Tone Air and Bone Conduction Threshold Audiometry. ISO 8253-1. Geneva: ISO.
14. BIAP Recommendation no 02/1 of Bureau International d'Audiophonologie. Lisboa. 1997.
15. International Organisation for Standardization. 2000. Acoustics-Threshold of hearing by air conduction as a function of age and sex for otologically normal persons. ISO 7029. Geneva: ISO.
16. Dreyer B, Tranebjærg L, Brox V et al. A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. Am J Hum Genet 2001: 69: 228-234.
17. Dreyer B, Tranebjærg L, Rosenberg T, Weston MD, Kimberling WJ, Nilssen Ø. Identification of novel USH2A mutations: implications for the structure of USH2A protein. Eur J Hum Genet 2000: 8: 500-506.
18. Adato A, Weston MD, Berry A, Kimbeling WJ, Bonne-Tamir A. Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families. Hum Mutat 2000: 15: 388-393.
19. Najera C, Beneyto M, Blanca J et al. Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. Hum Mutat 2002: 20: 76-77.
20. Leroy BP, Aragon-Martin JA, Weston MD et al. Spectrum of mutations in USH2A in British patients with Usher syndrome type II. Exp Eye Res 2001: 72: 503-509.
21. Liu XZ, Hope C, Liang CY et al. A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. Am J Hum Genet 1999: 64: 1221-1225.
22. Beneyto MM, Cuevas JM, Millan JM et al. Prevalence of 2314delG mutation in spanish patients with usher syndrome type II (USH2). Ophthalmic Genet 2000: 21: 123-128.
23. Rivolta C, Sweklo EA, Berson EL, Dryja TP. Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am J Hum Genet 2000: 66: 1975-1978.
24. Bernal S, Ayuso C, Antinolo G et al. Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. J Med Genet 2003: 40: e8.
25. Seyedahmadi BJ, Rivolta C, Keene JA, Berson EL, Dryja TP. Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. Exp Eye Res 2004: 79: 167-173.
26. Aller E, Najera C, Millan JM et al. Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments. Eur J Hum Genet 2004: 12: 407-410.
27. Moller CG, Kimberling WJ, Davenport SL et al. Usher syndrome: an otoneurologic study. Laryngoscope 1989: 99: 73-79.
28. Reisser CF, Kimberling WJ, Otterstedde CR. Hearing loss in Usher syndrome type II is nonprogressive. Ann Otol Rhinol Laryngol 2002: 111 (12 Pt 1): 1108-1111.
29. Van Aarem A, Pinckers AJ, Kimberling WJ, Huygen PL, Bleeker-Wagemakers EM, Cremers CW. Stable and progressive hearing loss in type 2A Usher's syndrome. Ann Otol Rhinol Laryngol 1996: 105: 962-967.
30. Pennings RJ, Huygen PL, Cremers WR. Hearing impairment in Usher syndrome type II. Ann Otol Rhinol Laryngol 2003: 112: 825.
31. Pennings RJ, Huygen PL, Weston MD et al. Pure tone hearing thresholds and speech recognition scores in Dutch patients carrying mutations in the USH2A gene. Otol Neurotol 2003: 24: 58-63.
32. Sadeghi M, Cohn ES, Kelly WJ, Kimberling WJ, Tranebjoerg L, Moller C. Audiological findings in Usher syndrome types IIa and II (non-IIa). Int J Audiol 2004: 43: 136-143.
33. Hmani-Aifa M, Ben Arab S, Kharrat K et al. Distinctive audiometric features between USH2A and USH2B subtypes of Usher syndrome. J Med Genet 2002: 39: 281-283.
34. Wagenaar M, van Aarem A, Huygen P, Pieke-Dahl S, Kimberling W, Cremers C. Hearing impairment related to age in Usher syndrome types 1B and 2A. Arch Otolaryngol Head Neck Surg 1999: 125: 441-445.
35. Dipple KM, McCabe ER. Phenotypes of patients with 'simple' Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am J Hum Genet 2000: 66: 1729-1735.