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Human Molecular Genetics Advance Access originally published online on March 11, 2004
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Human Molecular Genetics, 2004, Vol. 13, No. 9 975-981
DOI: 10.1093/hmg/ddh106
Human Molecular Genetics, Vol. 13, No. 9 © Oxford University Press 2004; all rights reserved

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

Ragnheidur Fossdal1,*, Fridbert Jonasson2, Gudlaug T. Kristjansdottir1, Augustine Kong1, Hreinn Stefansson1, Shyamali Gosh1, Jeffrey R. Gulcher1,{dagger} and Kari Stefansson1,{dagger}

1deCODE Genetics, IS-101 Reykjavik, Iceland and 2Department of Ophthalmology, National University Hospital, IS-101 Reykjavik, Iceland

Received January 23, 2004; Revised February 24, 2004; Accepted March 2, 2004

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.

* To whom correspondence should be addressed at: deCODE Genetics, Sturlugata 8, IS-101 Reykjavik, Iceland. Tel: +354 5701977; Fax: +354 5701903; E-mail: ragnheidur.fossdal{at}decode.is


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