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Paul S. Bernstein, Jaana Tammur, Nanda Singh, Amy Hutchinson, Missy Dixon, Chris M. Pappas, Norman A. Zabriskie, Kang Zhang, Konstantin Petrukhin, Mark Leppert, Rando Allikmets; Diverse Macular Dystrophy Phenotype Caused by a Novel Complex Mutation in the ELOVL4 Gene. Invest. Ophthalmol. Vis. Sci. 2001;42(13):3331-3336.
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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.
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