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Title: Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy
Authors: Shankar, Suma P.
Fingert, John H.
Carelli, Valerio
Valentino, Maria L.
King, Terri M.
Daiger, Stephen P.
Salomão, Solange Rios [UNIFESP]
Berezovsky, Adriana [UNIFESP]
Belfort, Rubens [UNIFESP]
Braun, Terri A.
Sheffield, Val C.
Sadun, Alfredo A.
Stone, Edwin M.
Univ Iowa
Univ Bologna
Univ Texas Houston
Universidade Federal de São Paulo (UNIFESP)
Howard Hughes Med Inst
Keck USC Sch Med
Doheny Eye Inst
Keywords: leber hereditary optic neuropathy
x-linked modifiers locus
optic atrophy
modifier gene
Issue Date: 1-Mar-2008
Publisher: Taylor & Francis Inc
Citation: Ophthalmic Genetics. Philadelphia: Taylor & Francis Inc, v. 29, n. 1, p. 17-24, 2008.
Abstract: Leber Hereditary Optic Neuropathy (LHON) is a maternally inherited blinding disease caused by missense mutations in the mitochondrial DNA (mtDNA). However, incomplete penetrance and a predominance of male patients presenting with vision loss suggest that modifying factors play an important role in the development of the disease. Evidence from several studies suggests that both nuclear modifier genes and environmental factors may be necessary to trigger the optic neuropathy in individuals harboring an LHON-causing mtDNA mutation. Recently, an optic neuropathy susceptibility locus at Xp21-Xq21 has been reported. in this study, we performed X-chromosomal linkage analysis in a large Brazilian family harboring a homoplasmic G11778A mtDNA mutation on a haplogroup J background. We report the identification of a novel LHON susceptibility locus on chromosome Xq25-27.2, with multipoint non-parametric linkage scores of > 5.00 (P = 0.005) and a maximum two-point non-parametric linkage score of 10.12, (P = 0.003) for marker DXS984 (Xq27.1). These results suggest genetic heterogeneity for X-linked modifiers of LHON.
ISSN: 1381-6810
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