Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa with Late-Onset Hearing Loss

PLoS ONE

Volumn 7, Issue 12, 2012, Pages

  Khateb, Samer ^a   Zelinger, Lina ^a   Ben Yosef, Tamar ^b   Merin, Saul ^a   Crystal Shalit, Ornit ^c   Gross, Menachem ^a   Banin, Eyal ^a   Sharon, Dror ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c MEIR MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUDIOMETRY; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; COHORT ANALYSIS; CONGENITAL DEAFNESS; CONTROLLED STUDY; ELECTRORETINOGRAPHY; EXOME; FEMALE; FOUNDER EFFECT; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MAPPING; GENETIC ASSOCIATION; GENETIC SCREENING; HEARING IMPAIRMENT; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; JEW; MALE; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; ONSET AGE; OPHTHALMOSCOPY; PERCEPTION DEAFNESS; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; USH1C GENE; USHER SYNDROME; USHER SYNDROME TYPE 1; VESTIBULAR DISORDER; YEMEN;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AGE OF ONSET; ALTERNATIVE SPLICING; AUDIOMETRY; BASE SEQUENCE; CHROMOSOME SEGREGATION; DNA MUTATIONAL ANALYSIS; EXOME; EXONS; FEMALE; FOUNDER EFFECT; FRAMESHIFT MUTATION; GENES, RECESSIVE; GENOME, HUMAN; HEARING LOSS; HOMOZYGOTE; HUMANS; ISRAEL; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS, DNA;

EID: 84871186467     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0051566     Document Type: Article

References (23)

1. Haim M (2002) Epidemiology of retinitis pigmentosa in Denmark. Acta Ophthalmol Scand Suppl: 1-34.
2. Bunker CH, Berson EL, Bromley WC, Hayes RP, Roderick TH, (1984) Prevalence of retinitis pigmentosa in Maine. Am J Ophthalmol 97: 357-365.
3. Hartong DT, Berson EL, Dryja TP, (2006) Retinitis pigmentosa. Lancet 368: 1795-1809.
4. Rivolta C, Sweklo EA, Berson EL, Dryja TP, (2000) Missense Mutation in the USH2A Gene: Association with Recessive Retinitis Pigmentosa without Hearing Loss. Am J Hum Genet 66: 1975-1978.
5. Kaiserman N, Obolensky A, Banin E, Sharon D, (2007) Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. Arch Ophthalmol 125: 219-224.
6. Aller E, Najera C, Millan JM, Oltra JS, Perez-Garrigues H, et al. (2004) Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments. Eur J Hum Genet 12: 407-410.
7. Xu W, Dai H, Lu T, Zhang X, Dong B, et al. (2011) Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II. Mol Vis 17: 1537-1552.
8. Sandberg MA, Rosner B, Weigel-DiFranco C, McGee TL, Dryja TP, et al. (2008) Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. Invest Ophthalmol Vis Sci 49: 5532-5539.
9. Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, et al. (2002) Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. Hum Genet 110: 527-531.
10. Weil D, Kussel P, Blanchard S, Levy G, Levi-Acobas F, et al. (1997) The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet 16: 191-193.
11. Auslender N, Sharon D, Abbasi AH, Garzozi HJ, Banin E, et al. (2007) A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews. Invest Ophthalmol Vis Sci 48: 5431-5438.
12. Beit-Ya'acov A, Mizrahi-Meissonnier L, Obolensky A, Landau C, Blumenfeld A, et al. (2007) Homozygosity for a novel ABCA4 founder splicing mutation is associated with progressive and severe Stargardt-like disease. Invest Ophthalmol Vis Sci 48: 4308-4314.
13. Clark JG, (1981) Uses and abuses of hearing loss classification. ASHA 23: 493-500.
14. Engdahl B, Tambs K, (2002) Otoacoustic emissions in the general adult population of Nord-Trondelag, Norway: II. Effects of noise, head injuries, and ear infections. Int J Audiol 41: 78-87.
15. Rozen S, Skaletsky HJ (2000) Primer3 on the WWW for general users and for biologist programmers. In: Krawetz S, Misener S, editors. Bioinformatics Methods and Protocols: Methods in Molecular Biology. Totowa, NJ: Humana Press. pp. 365-386.
16. Scanlan MJ, Williamson B, Jungbluth A, Stockert E, Arden KC, et al. (1999) Isoforms of the human PDZ-73 protein exhibit differential tissue expression. Biochim Biophys Acta 1445: 39-52.
17. Grillet N, Xiong W, Reynolds A, Kazmierczak P, Sato T, et al. (2009) Harmonin mutations cause mechanotransduction defects in cochlear hair cells. Neuron 62: 375-387.
18. Lillo C, Kitamoto J, Williams DS, (2006) Roles and interactions of usher 1 proteins in the outer retina. Adv Exp Med Biol 572: 341-348.
19. Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, et al. (2000) A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. NatGenet 26: 56-60.
20. Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, et al. (2000) A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. NatGenet 26: 51-55.
21. Ouyang XM, Xia XJ, Verpy E, Du LL, Pandya A, et al. (2002) Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness. Hum Genet 111: 26-30.
22. Saihan Z, Stabej Ple Q, Robson AG, Rangesh N, Holder GE, et al. (2011) Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss. Retina 31: 1708-1716.
23. Roux AF, Faugere V, Le Guedard S, Pallares-Ruiz N, Vielle A, et al. (2006) Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. J Med Genet 43: 763-768.