Human Molecular Genetics Advance Access published online on March 11, 2004
Human Molecular Genetics, doi:10.1093/hmg/ddh106
© 2004 by Oxford University Press
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1 deCODE genetics, Sturlugata 8, IS-101 Reykjavik, Iceland
* To whom correspondence should be addressed. E-mail: ragnheidur.fossdal{at}decode.is.
Sveinsson's Chorioretinal Atrophy (SCRA) also referred to as Helicoid Peripapillary Chorioretinal Degeneration (HPCD) or Atrophia Areata (AA) 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 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.
Article
A novel TEAD1 mutation is the causative allele in Sveinsson's Chorioretinal Atrophy (helicoid peripapillary chorioretinal degeneration)
2 Dept. of Ophthalmol., National University Hospital, IS-101 Reykjavik, Iceland
3 deCODE genetics, IS-101 Reykjavik, Iceland
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