Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene

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Publication Type Journal Article
School or College School of Medicine
Department Ophthalmology; Neurobiology & Anatomy; Neurology
Creator Bernstein, Paul S.; Zabriskie, Norman A.; Zhang, Kang; Leppert, Mark F.
Other Author Tammur, J.; Singh, N.; Hutchinson, A.; Dixon, M.; Pappas, C. M.; Petrukhin, K.; Allikmets, R.
Title Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene
Date 2001
Description PURPOSE: A 5-bp deletion in ELOVL4, a photoreceptor-specific gene, has been associated with autosomal dominant (ad) macular dystrophy phenotypes in five related families, in which phenotypes range from Stargardt-like macular dystrophy (STGD3; Mendelian Inheritance in Man 600110) to pattern dystrophy. This has been the only mutation identified in ELOVL4 to date, which is associated with macular dystrophy phenotypes. In the current study, the potential involvement was investigated of an ELOVL4 gene variation in adSTGD-like and other macular dystrophy phenotypes segregating in a large unrelated pedigree from Utah (K4175). METHODS: The entire open reading frame of the ELOVL4 gene was analyzed by direct sequencing in a proband from the K4175 family. The combination of denaturing high-performance liquid chromatography (DHPLC) analysis and direct sequencing of all available family members was used to further assess segregation of identified ELOVL4 variants in the pedigree. RESULTS: A complex mutation, two 1-bp deletions separated by four nucleotides, was detected in all affected members of the family. The mutation results in a frameshift and the truncation of the ELOVL4 protein, similar to the effect of the previously described 5-bp deletion. CONCLUSIONS: The discovery of a second mutation in the ELOVL4 gene segregating with macular dystrophy phenotypes confirms the role of this gene in a subset of dominant macular dystrophies with a wide range of clinical expressions and suggests a role for modifying genes and/or environmental factors in the disease process.
Type Text
Publisher Association for Research in Vision and Ophthalmology
Volume 42
Issue 13
First Page 3331
Last Page 3336
Subject Linkage (Genetics); Middle Aged; Phenotype
Subject MESH Eye Proteins; Macular Degeneration; Mutation
Language eng
Bibliographic Citation Bernstein PS, Tammur J, Singh N, Hutchinson A, Dixon M, Pappas CM, Zabriskie NA, Zhang K, Petrukhin K, Leppert M, Allikmets R. (2001). Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene. Invest Ophthalmol Vis Sci, 42(13), 3331-6
Rights Management (c) Association for Research in Vision and Ophthalmology
Format Medium application/pdf
Identifier ir-main,1757
ARK ark:/87278/s65h80r4
Setname ir_uspace
Date Created 2012-06-13
Date Modified 2021-05-06
ID 706296
Reference URL https://collections.lib.utah.edu/ark:/87278/s65h80r4
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