| Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene. | |
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MedLine Citation:
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PMID: 20309403 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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PURPOSE: To characterize the clinical, psychophysical, and electrophysiological phenotypes in a five-generation Swiss family with dominantly inherited retinitis pigmentosa caused by a T494M mutation in the Precursor mRNA-Processing factor 3 (PRPF3) gene, and to relate the phenotype to the underlying genetic mutation. METHODS: Eleven affected patients were ascertained for phenotypic and genotypic characterization. Ophthalmologic evaluations included color vision testing, Goldmann perimetry, and digital fundus photography. Some patients had autofluorescence imaging, Optical Coherence Tomography, and ISCEV-standard full-field electroretinography. All affected patients had genetic testing. RESULTS: The age of onset of night blindness and the severity of the progression of the disease varied between members of the family. Some patients reported early onset of night blindness at age three, with subsequent severe deterioration of visual acuity, which was 0.4 in the best eye after their fifties. The second group of patients had a later onset of night blindness, in the mid-twenties, with a milder disease progression and a visual acuity of 0.8 at age 70. Fundus autofluorescence imaging and electrophysiological and visual field abnormalities also showed some degree of varying phenotypes. The autofluorescence imaging showed a large high-density ring bilaterally. Myopia (range: -0.75 to -8) was found in 10/11 affected subjects. Fundus findings showed areas of atrophy along the arcades. A T494M change was found in exon 11 of the PRPF3 gene. The change segregates with the disease in the family. CONCLUSIONS: A mutation in the PRPF3 gene is rare compared to other genes causing autosomal dominant retinitis pigmentosa (ADRP). Although a T494M change has been reported, the family in our study is the first with variable expressivity. Mutations in the PRPF3 gene can cause a variable ADRP phenotype, unlike in the previously described Danish, English, and Japanese families. Our report, based on one of the largest affected pedigree, provides a better understanding as to the phenotype/genotype description of ADRP caused by a PRPF3 mutation. |
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Authors:
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Veronika Vaclavik; Marie-Claire Gaillard; L Tiab; Daniel F Schorderet; Francis L Munier |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2010-03-19 |
Journal Detail:
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Title: Molecular vision Volume: 16 ISSN: 1090-0535 ISO Abbreviation: Mol. Vis. Publication Date: 2010 |
Date Detail:
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Created Date: 2010-03-23 Completed Date: 2010-05-11 Revised Date: 2010-09-30 |
Medline Journal Info:
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Nlm Unique ID: 9605351 Medline TA: Mol Vis Country: United States |
Other Details:
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Languages: eng Pagination: 467-75 Citation Subset: IM |
Affiliation:
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Hopital Ophtalmique Jules Gonin, Oculogenetic unit 15, Lausanne, Switzerland. veronikavaclavik@yahoo.co.uk |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Aged Amino Acid Substitution / genetics* Base Sequence Child Child, Preschool DNA Mutational Analysis Electroretinography Family Female Fluorescence Fundus Oculi Genes, Dominant / genetics* Humans Male Methionine / genetics Middle Aged Molecular Sequence Data Mutation / genetics* Nuclear Proteins / genetics* Phenotype Retinitis Pigmentosa / genetics* Ribonucleoprotein, U4-U6 Small Nuclear / genetics* Switzerland Threonine / genetics Young Adult |
| Chemical | |
Reg. No./Substance:
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0/Nuclear Proteins; 0/PRPF3 protein, human; 0/Ribonucleoprotein, U4-U6 Small Nuclear; 63-68-3/Methionine; 72-19-5/Threonine |
| Comments/Corrections | |
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