Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy

Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy

Author Shankar, Suma P. Google Scholar
Fingert, John H. Google Scholar
Carelli, Valerio Google Scholar
Valentino, Maria L. Google Scholar
King, Terri M. Google Scholar
Daiger, Stephen P. Google Scholar
Salomão, Solange Rios Autor UNIFESP Google Scholar
Berezovsky, Adriana Autor UNIFESP Google Scholar
Belfort, Rubens Autor UNIFESP Google Scholar
Braun, Terri A. Google Scholar
Sheffield, Val C. Google Scholar
Sadun, Alfredo A. Google Scholar
Stone, Edwin M. Google Scholar
Institution Univ Iowa
Univ Bologna
Univ Texas Houston
Universidade Federal de São Paulo (UNIFESP)
Howard Hughes Med Inst
Keck USC Sch Med
Doheny Eye Inst
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.
Keywords leber hereditary optic neuropathy
LHON
x-linked modifiers locus
optic atrophy
modifier gene
Language English
Date 2008-03-01
Published in Ophthalmic Genetics. Philadelphia: Taylor & Francis Inc, v. 29, n. 1, p. 17-24, 2008.
ISSN 1381-6810 (Sherpa/Romeo, impact factor)
Publisher Taylor & Francis Inc
Extent 17-24
Origin http://dx.doi.org/10.1080/13816810701867607
Access rights Closed access
Type Article
Web of Science ID WOS:000254627800003
URI http://repositorio.unifesp.br/handle/11600/30515

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