Combination of retinitis pigmentosa and hearing loss caused by a novel mutation in PRPH2 and a known mutation in GJB2: Importance for differential diagnosis of Usher syndrome

Vision Research

Volumn 75, Issue , 2012, Pages 71-76

  Fakin, Ana ^a   Zupan, Andrej ^b   Glavač, Damjan ^b   Hawlina, Marko ^a  

^a UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

^b UNIVERSITY OF LJUBLJANA   (Slovenia)

Author keywords

Deafness; GJB2; PRPH2; RDS peripherin; Retinitis pigmentosa; Usher syndrome

Indexed keywords

CONNEXIN 26; DNA; LEUCINE; PERIPHERIN; PROLINE; RESTRICTION ENDONUCLEASE;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOFLUORESCENCE IMAGING; CASE REPORT; COLOR VISION; COMORBIDITY; DIFFERENTIAL DIAGNOSIS; DNA FLANKING REGION; EXON; EYE EXAMINATION; FAMILY STUDY; FATHER; FEMALE; GENE MUTATION; GJB2 GENE; HETEROZYGOSITY; HIGH RESOLUTION MELTING ANALYSIS; HOMOZYGOSITY; HUMAN; INTRON; MALE; ONSET AGE; OPTICAL COHERENCE TOMOGRAPHY; PATHOGENESIS; PERCEPTION DEAFNESS; PERIMETRY; PHENOTYPE; PRIORITY JOURNAL; PRPH2 GENE; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS; SIBLING; USHER SYNDROME; VISUAL ACUITY;

EID: 84871804383     PISSN: 00426989     EISSN: 18785646     Source Type: Journal    
DOI: 10.1016/j.visres.2012.07.011     Document Type: Article

References (10)

1. Bayazit Y.A., Yilmaz M. An overview of hereditary hearing loss. ORL: Journal of Oto-Rhino-Laryngology and Its Related Specialties 2006, 68(2):57-63.
2. Boon C.J., den Hollander A.I., Hoyng C.B., Cremers F.P., Klevering B.J., Keunen J.E. The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene. Progress in Retinal and Eye Research 2008, 27(2):213-235.
3. Boughman J.A., Vernon M., Shaver K.A. Usher syndrome: Definition and estimate of prevalence from two high-risk populations. Journal of Chronic Diseases 1983, 36(8):595-603.
4. Daiger, S. P. (2004). Identifying retinal disease genes: How far have we come, how far do we have to go? Novartis Foundation Symposium, 255, 17-27; discussion 27-36, 177-178.
5. Duman D., Tekin M. Autosomal recessive nonsyndromic deafness genes: A review. Frontiers in Bioscience 2012, 17:2213-2236.
6. Hochman J.B., Stockley T.L., Shipp D., Lin V.Y., Chen J.M., Nedzelski J.M. Prevalence of Connexin 26 (GJB2) and Pendred (SLC26A4) mutations in a population of adult cochlear implant candidates. Otol Neurotol 2010, 31(6):919-922.
7. Keats B.J. Genes and syndromic hearing loss. Journal of Communication Disorders 2002, 35(4):355-366.
8. Renner A.B., Fiebig B.S., Weber B.H., Wissinger B., Andreasson S., Gal A., et al. Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations. American Journal of Ophthalmology 2009, 147(3):518-530. (e511).
9. Sandberg M.A., Rosner B., Weigel-DiFranco C., McGee T.L., Dryja T.P., Berson E.L. Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. Investigative Ophthalmology & Visual Science 2008, 49(12):5532-5539.
10. Vernon M. Usher's syndrome-deafness and progressive blindness. Clinical cases, prevention, theory and literature survey. Journal of Chronic Diseases 1969, 22(3):133-151.