Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa

Byron L Lam, Stephan L Züchner, Julia Dallman, Rong Wen, Eduardo C Alfonso, Jeffery M Vance, Margaret A Peričak-Vance | Advances in Experimental Medicine and Biology book series | 2014 Jan 1 | vol. 801 | 165-70 |

doi: 10.1007/978-1-4614-3209-8_21

A single-nucleotide mutation in the gene that encodes DHDDS has been identified by whole exome sequencing as the cause of the non-syndromic recessive retinitis pigmentosa (RP) in a family of Ashkenazi Jewish origin in which three of the four siblings have early onset retinal degeneration. The peripheral retinal degeneration in the affected siblings was evident in the initial examination in 1992 and only one had detectable electroretinogram (ERG) that suggested cone-rod dysfunction.

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