OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance

Human Molecular Genetics

Volumn 10, Issue 13, 2001, Pages 1359-1368

  Pesch, Ulrike E A ^a   Leo Kottler, Beate ^a   Mayer, Simone ^a   Jurklies, Bernhard ^b   Kellner, Ulrich ^c   Apfelstedt Sylla, Eckart ^a   Zrenner, Eberhart ^a   Alexander, Christiane ^a,d   Wissinger, Bernd ^a  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b UNIVERSITY HOSPITAL ESSEN   (Germany)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CELL PROTEIN; COMPLEMENTARY DNA; DYNAMIN; GUANOSINE TRIPHOSPHATASE; OPA1 PROTEIN; RNA; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD PARENT RELATION; CHROMOSOME 3Q; CONTROLLED STUDY; DISEASE SEVERITY; GENE AMPLIFICATION; GENE CLUSTER; GENE LOCATION; GENE MUTATION; GENETIC SCREENING; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HEREDITARY OPTIC ATROPHY; HETEROZYGOSITY; HUMAN; HUMAN CELL; LEUKOCYTE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MITOCHONDRION; PARENT; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DOMAIN; RNA TRANSLATION; SIBLING;

EID: 0035875085     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.13.1359     Document Type: Article

References (33)

1. Linkage analysis in dominant optic atrophy
2. Dominant optic atrophy mapped to chromosome 3q region
3. Autosomal dominant optic atrophy: A spectrum of disability
4. Hereditary optic atrophies in childhood
5. Dominant optic atrophy. The clinical profile
6. Dominant optic atrophy. Refining the clinical diagnostic criteria in light of genetic linkage studies
7. Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy
8. A clinicopathologic study of autosomal dominant atropy
9. Histopathology of eye, optic nerve and brain in a case dominant optic atrophy
10. Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis
11. Genetic refinement of dominant optic atrophy (OPA1) locus within a 2 cM interval of chromosome 3q
12. Clinical and genetic analysis of a family affected with dominant optic atrophy
13. Refinement of the locus for autosomal dominant juvenile optic atrophy to a 2 cM region on 3q28
14. Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2-8 cM, in one Cuban pedigree with autosomal dominant optic atrophy type Kjer
15. No evidence of genetic heterogeneity in dominant optic atrophy
16. Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3
17. Refinement of the dominant optic atrophy locus (OPA1) to a 1.4 cM interval on chromosome 3q28-3q29, within a 3-Mb YAC contig
18. Positionelles Klonieren am Lokus der autosomal dominanten Optikus Atrophie (Typ Kjer)
19. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
20. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
21. Normal mitochondrial structure and genomic maintenance in yeast requires the dynamin-like product of the MGM1 gene
22. Fission yeast Msp1 is a mitochondrial dynamin-related protein
23. Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method: A study of 38 British Isles pedigrees
24. Demonstration of a founder effect in British and Danish pedigrees mapping to the dominant optic atrophy locus on 3q28-qter
25. GTP-binding domain: Three consensus sequence elements with distinct spacing
26. Identification of a fission yeast dynamin-related protein involved in mitochondrial DNA maintenance
27. A perfect message: RNA surveillance and nonsense-mediated decay
28. Binary specification of nonsense codons by splicing and cytoplasmic translation
29. At least one intron is required for the nonsense-mediated decay of triosephosphate isomerase mRNA: A possible link between nuclear splicing and cytoplasmic translation
30. Maintenance of an open reading frame as an additional level of scrutiny during splice site selection
31. Leber hereditary optic neuropathy: Respiratory chain dysfunction and degeneration of the optic nerve
32. Leber's hereditary optic neuropathy: A model for mitochondrial neurodegenerative diseases