A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy

Kang Zhang, Marina Kniazeva, Min Han, Wen Li, Zhengya Yu, Zhenglin Yang, Yang Li, Michael L. Metzker, Rando Allikmets, Donald J. Zack, Laura E. Kakuk, Pamela S. Lagali, Paul W. Wong, Ian M. MacDonald, Paul A. Sieving, David J. Figueroa, Christopher P. Austin, Robert J. Gould, Radha Ayyagari, Konstantin Petrukhin

Research output: Contribution to journalArticlepeer-review

358 Scopus citations


Stargardt-like macular dystrophy (STGD3, MIM 600110) and autosomal dominant macular dystrophy (adMD) are inherited forms of macular degeneration characterized by decreased visual acuity, macular atrophy and extensive fundus flecks1-3. Genetic mapping data suggest that mutations in a single gene may be responsible for both conditions, already known to bear clinical resemblance1-3. Here we limit the minimum genetic region for STGD3 and adMD to a 0.6cM interval by recombination breakpoint mapping and identify a single 5-bp deletion within the protein-coding region of a new retinal photoreceptor-specific gene, ELOVL4, in all affected members of STGD3 and adMD families. Bioinformatic analysis of ELOVL4 revealed that it has homology to a group of yeast proteins that function in the biosynthesis of very long chain fatty acids. Our results are therefore the first to implicate the biosynthesis of fatty acids in the pathogenesis of inherited macular degeneration.

Original languageEnglish (US)
Pages (from-to)89-93
Number of pages5
JournalNature Genetics
Issue number1
StatePublished - 2001
Externally publishedYes

ASJC Scopus subject areas

  • Genetics


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