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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 syndromeFakin, Ana ...Purpose of this study was to molecularly characterize a family in which two brothers (46 and 36years) presented with a combination of retinitis pigmentosa(RP) and severe sensorineural hearing loss ... while father and sister (71 and 41years) presented with isolated RP. Retinal phenotype was compared with phenotype of 17 patients with Usher syndrome type 1. Ophthalmological examination included assessment of Snellen visual acuity, color vision with Ishihara tables, Goldmann perimetry (targets II/1-4) and microperimetry. Fundus autofluorescence imaging and optical coherence tomography were performed. Direct sequencing of all coding exons and flanking intronic sequences of GJB2 (gap junction protein, beta 2) and PRPH2 (peripherin 2) genes was performed in younger brother. Other family members were analyzed with sequencing (GJB2), high resolution melt analysis (GJB2) or restriction enzymes (PRPH2). Brothers with hearing loss were found to carry a homozygous c.35delG mutation in GJB2, the most common mutation associated with recessive hearing loss. All patients were found to carry a novel heterozygous mutation c.389T>C (p.Leu130Pro) on PRPH2. Age of onset was higher in PRPH2 than USH1 patients, however with some overlap. Differentiation from retinal phenotype ofUSH1 could only be made in the oldest patient, who retained good central visual function after more than three decades of disease.Source: Vision Research. - ISSN 0042-6989 (Vol. 75, 2012, str. 71-76)Type of material - article, component part ; adult, seriousPublish date - 2012Language - englishCOBISS.SI-ID - 30074329
Author
Fakin, Ana |
Zupan, Andrej, 1981- |
Glavač, Damjan |
Hawlina, Marko
Topics
Retinitis Pigmentosa |
Genetics |
Diagnosis |
Hearing Disorders |
Mutation |
Phenotype |
Perimetry |
Exons |
Connexins |
Vision Tests |
Retinitis pigmentozni |
Perimetrija |
Sluh, motnje |
Fenotip |
Mutacija |
Eksoni |
Koneksini |
Vid, testi
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Database name | Field | Year |
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Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
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Fakin, Ana | 33340 |
Zupan, Andrej, 1981- | 28143 |
Glavač, Damjan | 09275 |
Hawlina, Marko | 09154 |
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