Journal
ACTA OPHTHALMOLOGICA
Volume 88, Issue 3, Pages 323-328Publisher
WILEY-BLACKWELL
DOI: 10.1111/j.1755-3768.2008.01465.x
Keywords
autosomal dominant inheritance; electroretinography; missense mutation; pericentral retinal dystrophy; retinitis pigmentosa; TOPORS
Categories
Funding
- Norwegian Association of the Blind
- Retinitis Pigmentosa Association in Norway
- Novartis Medical Company
- Schiotz Foundation and Eastern Norway Regional Health Authority
Ask authors/readers for more resources
Purpose: This study aimed to identify the genetic cause of autosomal dominant pericentral retinal dystrophy (adPRD) in a large Norwegian family with 35 affected members. Methods: The family was characterized by clinical ophthalmological examination along with fundus photography, dark adaptometry and electroretinography. We performed a genome-wide linkage analysis followed by sequencing of a candidate gene to identify the mutation causing the disease. Results: The ophthalmological examinations revealed an atypical form of retinitis pigmentosa (RP), which we prefer to call adPRD. Compared with classical RP, this phenotype has a favourable prognosis. Linkage analysis showed a linkage peak covering the most recently reported adRP gene TOPORS. This gene was sequenced in 19 family members and a novel missense mutation, c.1205a > c, resulting in an amino acid substitution p.Q402P, was detected in all affected members. The mutation showed complete co-segregation with the disease in this family, with a LOD score of 7.3. It is located in a highly conserved region and alignment with the appropriate DNA sequence from other species shows complete conservation of this amino acid. The mutation was not detected in 207 healthy, unrelated controls of Norwegian origin. Conclusions: We present a novel mutation in the TOPORS gene co-segregating with a distinct phenotype of adPRD in a large Norwegian family.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available