ArticleAmerican journal of human genetics1997
A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 67 citations in OpenAlex.
- Variants in the WDR45 Gene Within the OPA-2 Locus Associate With Isolated X-Linked Optic Atrophy.Investigative ophthalmology & visual science · 2023Article
- Ocular findings and genomics of X-linked recessive disorders: A review.Indian journal of ophthalmology · 2022Review
- Medical management of hereditary optic neuropathies.Frontiers in neurology · 2014Review
- The optic nerve: a "mito-window" on mitochondrial neurodegeneration.Molecular and cellular neurosciences · 2013Review
- Instability in X chromosome inactivation patterns in AMD: a new risk factor?Medical hypothesis, discovery & innovation ophthalmology journal · 2013Review
- Dominant optic atrophy.Orphanet journal of rare diseases · 2012Review
- Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Progress in retinal and eye research · 2011Review
- Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia.Human molecular genetics · 2011Article
- The ERCC6 gene and age-related macular degeneration.PloS one · 2010Article
- [Hereditary optic atrophies].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2009Article
- A review of primary hereditary optic neuropathies.Journal of inherited metabolic disease · 2003Review
- Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy.The British journal of ophthalmology · 2003Article
- Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy.Journal of medical genetics · 1998Review
- Optic atrophies in metabolic disorders.Molecular genetics and metabolismReview
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The aim of this study was to identify the chromosomal location of the disease-causing gene in a family apparently segregating X-linked optic atrophy. A large family of 45 individuals with a four-generation history of X-linked optic atrophy was reexamined in a full ophthalmic as well as electrophysiological examination. A DNA linkage analysis of the family was undertaken in order to identify the chromosomal location of the disease-causing gene. Linkage analysis was performed with 26 markers that spanned the entire X chromosome. The affected males showed very early onset and slow progression of the disease. Ophthalmic study of the female carriers did not reveal any abnormalities. Close linkage without recombination was found at the MAOB locus (maximum LOD score [Zmax] 4.19). The Zmax - 1 support interval was found at a recombination fraction of .076 distal and .018 proximal to MAOB. Multipoint linkage analysis placed the optic atrophy-causing gene in the Xp11.4-p11.21 interval between markers DXS993 and DXS991, whereas any other localization along the X chromosome could be excluded.
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