Linkage analysis in lattice corneal dystrophy

Kivlin, Jane D.; Lovrien, Everett W.; Maumenee, Irene H.; Bishop, D. Timothy; Bias, Wilma Β.

doi:10.1002/ajmg.1320190222

Cited by 27 publications

(28 citation statements)

References 2 publications

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“…Electrophysiologic studies confirm loss of ganglion cell function predominantly from central retina, but not the exclusive result of either parvocellular or magnocellular cell loss. 111 One study of a large pedigree of German descent suggested linkage of the gene responsible for dominant optic atrophy with the Kidd blood group antigen, subsequently localized to chromosome 18q12 112,119 (see the accompanying article in this volume on the molecular genetics of optic neuropathies). Further study of this family refined the chromosomal locus to a 3-cM region at 18q12.…”

Section: Dominant Optic Atrophymentioning

confidence: 99%

Hereditary optic neuropathies

Newman

Biousse

2004

Eye

151

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Aims To provide a clinical update on the hereditary optic neuropathies. Methods Review of the literature. Results The hereditary optic neuropathies comprise a group of disorders in which the cause of optic nerve dysfunction appears to be hereditable, based on familial expression or genetic analysis. In some hereditary optic neuropathies, optic nerve dysfunction is typically the only manifestation of the disease. In others, various neurologic and systemic abnormalities are regularly observed. Conclusion The most common hereditary optic neuropathies are autosomal dominant optic atrophy (Kjer's disease) and maternally inherited Leber's hereditary optic neuropathy. We review the clinical phenotypes of these and other inherited disorders with optic nerve involvement.

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Section: Dominant Optic Atrophymentioning

confidence: 99%

Hereditary optic neuropathies

Newman

Biousse

2004

Eye

151

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“…Denmark has the highest reported frequency (Kjer et al, 1996). The disease shows 98 % penetrance but has a clinically variable phenotype both within and between families (Kivlin et al, 1983). Symptoms include a bilateral, slow visual loss ranging from mild to severe, abnormalities of colour vision (particularly tritanopia) and central or centrocaecal field defects.…”

confidence: 99%

A high-density transcript map of the human dominant optic atrophy OPA1 gene locus and re-evaluation of evidence for a founder haplotype

Murton

French

Toomes

et al. 2001

Cytogenet Genome Res

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Dominant optic atrophy (DOA, gene OPA1) is the commonest form of inherited optic atrophy. Linkage studies have shown that a locus for this disease lies in a 1.4-cM region at chromosome 3q28→q29 and have suggested a founder haplotype for as many as 95% of the linked families. To aid the identification of candidate genes for this disease, we have constructed a Bacterial Artificial Chromosome (BAC) contig covering approximately 3.3 Mb and encompassing the OPA1 critical region (flanking markers D3S3669 and D3S3562). This physical map corrects errors in the marker order reported in the literature, allowing the OPA1 critical region to be precisely defined. A reassessment of the founder effect in the light of the revised marker order suggests that it may not be as significant as had previously been suggested. A high-density transcript map was created by precisely mapping genes and expressed sequence tags (ESTs) from GeneMap’99, that have been loosely assigned to the region by radiation hybrid mapping. One known gene (KIAA0567 protein) and 15 ESTs were found to lie within the minimal disease region. Analysis of the sequence data already available from within the OPA1 critical region allowed the identification and mapping of a further 31 ESTs. The work presented in this study provides the basis for the characterisation of candidate genes and the ultimate identification of the gene mutated in DOA.

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“…(McKusick no. 16540) is also possibly linked to Jk (Kivlin et al, 1984). However, since the maximum lod score is only slightly above 2, additional data will be needed for any assignment.…”

Section: Page 23mentioning

confidence: 99%