Back to Search
Start Over
Clinical and genetic identification of a large chinese family with autosomal dominant retinitis pigmentosa.
- Source :
-
Ophthalmic genetics [Ophthalmic Genet] 2015 Mar; Vol. 36 (1), pp. 64-9. Date of Electronic Publication: 2013 Jul 08. - Publication Year :
- 2015
-
Abstract
- Background: Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies characterized by night blindness, progressive peripheral visual field loss, and loss of central vision. Fifty-three RP pathogenic genes are responsible for RP. Pre-mRNA processing factor 31(PRPF31) gene is the third most common cause of autosomal dominant retinitis pigmentosa (adRP), and so far more than 40 mutations in PRPF31 have been detected.<br />Purpose: To identify the underlying genetic defect in a five-generation Chinese family affected with adRP and to study the genotype-phenotype relationship of this family.<br />Methods: Detailed clinical investigations were undertaken and peripheral blood samples were collected from 25 individuals. Microsatellite (STR) markers tightly linked to genes known to be responsible for adRP were selected for linkage analysis. Exons and adjacent splice junctions of the candidate gene were amplified and sequenced.<br />Results: This adRP family exhibited an incomplete penetrance of the RP phenotype. In affected individuals, age of disease onset was from infancy to 4 years of age. Typical RP features were associated with this mutation. Linkage analysis identified a maximum two-point LOD score of 3.20 with D19S418, which is close to PRPF31. A mutation PRPF31: (c.358-359 del AA) was identified by linkage analysis.<br />Conclusions: A PRPF31 mutation was identified to be responsible for adRP in a large Chinese family. Our findings expand the mutation spectrum of RP in the Chinese population.
- Subjects :
- Adult
Aged
China epidemiology
DNA Mutational Analysis
Electroretinography
Exons genetics
Female
Fluorescein Angiography
Genetic Association Studies
Genetic Linkage
Humans
Lod Score
Male
Microsatellite Repeats
Middle Aged
Pedigree
Polymerase Chain Reaction
Retinitis Pigmentosa diagnosis
Tomography, Optical Coherence
Young Adult
Asian People genetics
Eye Proteins genetics
Genes, Dominant genetics
Mutation
Retinitis Pigmentosa genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1744-5094
- Volume :
- 36
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Ophthalmic genetics
- Publication Type :
- Academic Journal
- Accession number :
- 23834559
- Full Text :
- https://doi.org/10.3109/13816810.2013.809458