A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration)

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field Sveinsson's chorioretinal atrophy (SCRA), also referred to as helicoid peripapillary chorioretinal degeneration or atrophia areata, is an autosomal dominant eye disease, characterized...

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Bibliographic Details
Published in:Human Molecular Genetics
Main Authors: Fossdal, Ragnheidur, Jonasson, Fridbert, Kristjansdottir, Gudlaug T, Kong, Augustine, Stefansson, Hreinn, Gosh, Shyamali, Gulcher, Jeffrey R, Stefansson, Kari
Format: Article in Journal/Newspaper
Language:English
Published: Oxford University Press 2004
Subjects:
Adaptor Proteins
Signal Transducing
Alleles
Amino Acid Sequence
Binding Sites
Choroid Diseases
Chromosome Mapping
Conserved Sequence
DNA-Binding Proteins
Female
Iceland
Linkage (Genetics)
Male
Molecular Sequence Data
Mutation
Missense
Nuclear Proteins
Pedigree
Phosphoproteins
Retinal Degeneration
Transcription Factors
Online Access:http://hdl.handle.net/2336/3419
https://doi.org/10.1093/hmg/ddh106
Description
Summary:To access publisher full text version of this article. Please click on the hyperlink in Additional Links field Sveinsson's chorioretinal atrophy (SCRA), also referred to as helicoid peripapillary chorioretinal degeneration or atrophia areata, is an autosomal dominant eye disease, characterized by symmetrical lesions radiating from the optic disc involving the retina and the choroid. Genome-wide linkage analysis mapped the SCRA gene to chromosome 11p15 in 81 patients from a large founder pedigree in Iceland. The parametric LOD score obtained was 18.9 using an autosomal dominant model with high penetrance. Crossover analysis of the linkage region with 51 markers identified a 593 kb segment shared by all patients. Sequencing exons of the only gene in this interval, the transcriptional enhancer TEAD1, revealed a novel missense mutation (Y421H) carried by all patients and none of the 502 controls. The mutation is in a conserved amino acid sequence in the C terminal of the protein, a potential binding site for YAP65 one of TEAD1's cofactors that is expressed in human retina as well as TEAD1 based on RT-PCR experiments. Therefore, we conclude that the mutation in the TEAD1 gene is the cause of Sveinsson's chorioretinal atrophy.

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