A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews.

@article{Zelinger2011AMM,
  title={A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews.},
  author={Lina Zelinger and Eyal Banin and Alexey Obolensky and Liliana Mizrahi-Meissonnier and Avigail Beryozkin and Dikla Bandah-Rozenfeld and S Frenkel and Tamar Ben-Yosef and Saul Merin and Sharon B. Schwartz and Artur V. Cideciyan and Samuel G. Jacobson and Dror Sharon},
  journal={American journal of human genetics},
  year={2011},
  volume={88 2},
  pages={207-15}
}
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations caused by mutations in at least 50 genes. Using homozygosity mapping in Ashkenazi Jewish (AJ) patients with autosomal-recessive RP (arRP), we identified a shared 1.7 Mb homozygous region on chromosome 1p36.11. Sequence analysis revealed a founder homozygous missense mutation, c.124A>G (p.Lys42Glu), in the dehydrodolichyl diphosphate synthase gene (DHDDS) in 20 AJ patients with RP of 15 unrelated families. The… CONTINUE READING
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