Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

Suma P Shankar; John H Fingert; Valerio Carelli; Maria L Valentino; Terri M King; Stephen P Daiger; Solange R Salomao; Adriana Berezovsky; Rubens Belfort; Terri A Braun; Val C Sheffield; Alfredo A Sadun; Edwin M Stone

doi:10.1080/13816810701867607

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Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

Journal article

Peer reviewed

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

Suma P Shankar, John H Fingert, Valerio Carelli, Maria L Valentino, Terri M King, Stephen P Daiger, Solange R Salomao, Adriana Berezovsky, Rubens Belfort, Terri A Braun, …

Ophthalmic Genetics, Vol.29(1), pp.17-24

01/01/2008

DOI: 10.1080/13816810701867607

PMID: 18363168

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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.

optic atrophy

LHON

modifier gene

leber hereditary optic neuropathy

x-linked modifiers locus

Details

Title: Subtitle: Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy
Creators: Suma P Shankar
John H Fingert
Valerio Carelli
Maria L Valentino
Terri M King - The University of Texas Health Science Center at Houston
Stephen P Daiger
Solange R Salomao
Adriana Berezovsky
Rubens Belfort
Terri A Braun
Val C Sheffield
Alfredo A Sadun
Edwin M Stone
Resource Type: Journal article
Publication Details: Ophthalmic Genetics, Vol.29(1), pp.17-24
DOI: 10.1080/13816810701867607
PMID: 18363168
NLM abbreviation: Ophthalmic Genet
ISSN: 1381-6810
eISSN: 1744-5094
Publisher: Taylor & Francis
Language: English
Date published: 01/01/2008
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Electrical and Computer Engineering; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983979962602771

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