Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and CACNA1F expression profiling in mouse retina

European Journal of Human Genetics

Volumn 10, Issue 8, 2002, Pages 449-456

  Wutz, Krisztina ^a   Sauer, Christian ^b   Zrenner, Eberhart ^c   Lorenz, Birgit ^d   Alitalo, Tiina ^e   Broghammer, Martina ^c   Hergersberg, Martin ^f   de La Chapelle, Albert ^e   Weber, Bernhard H F ^b   Wissinger, Bernd ^c   Meindl, Alfons ^a   Pusch, Carsten M ^c,g  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^d UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^e HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^f UNIVERSITY OF ZURICH   (Switzerland)

^g UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

CSNB2; Mutation screening; Ophthalmogenetics

Indexed keywords

CALCIUM CHANNEL L TYPE; MEMBRANE PROTEIN; PROTEIN CACNA1F; UNCLASSIFIED DRUG; CACNA1F PROTEIN, HUMAN; CALCIUM CHANNEL; PRIMER DNA;

ALPHA CHAIN; ARTICLE; CHROMOSOME XP; CLINICAL FEATURE; CONTROLLED STUDY; ELECTRORETINOGRAM; EXON; GENE EXPRESSION PROFILING; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; MOUSE; MYOPIA; NERVE CELL; NIGHT BLINDNESS; NONHUMAN; NYSTAGMUS; PHOTORECEPTOR; PRIORITY JOURNAL; RETINA; RETINA CELL; SIGNAL TRANSDUCTION; STRABISMUS; X CHROMOSOME LINKAGE; AMINO ACID SEQUENCE; ANIMAL; CALCIUM SIGNALING; CHROMOSOME MAP; EYE DISEASE; FEMALE; GENE DELETION; GENETICS; HUMAN; MALE; METHODOLOGY; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHYSIOLOGY; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY; SINGLE STRAND CONFORMATION POLYMORPHISM; X CHROMOSOME;

AMINO ACID SEQUENCE; ANIMAL; BASE SEQUENCE; CALCIUM CHANNELS; CALCIUM CHANNELS, L-TYPE; CALCIUM SIGNALING; CHROMOSOME MAPPING; DNA PRIMERS; EYE DISEASES; FEMALE; GENE EXPRESSION PROFILING; HUMAN; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; NIGHT BLINDNESS; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RETINA; SEQUENCE ALIGNMENT; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID; SUPPORT, NON-U.S. GOV'T; X CHROMOSOME; ANIMALS; HUMANS;

EID: 0035991631     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200828     Document Type: Article

References (35)

1. Congenital stationary night blindness: A critical review for molecular approaches
2. X-linked congenital stationary night blindness: Review and report of a family with hyperopia
3. Congenital stationary night blindness with negative electroretinogram. A new classification
4. Characteristic ERG flicker anomaly in incomplete congenital stationary night blindness
5. Clinical findings in patients with congenital stationary night blindness of the Schubert-Bornschein type
6. Die inkomplette kongenitale statinäre Nachtblindheit (CSNB). Eine wichtige Differentialdiagnose des kongenitalen Nystagmus
7. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness
8. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein
9. An L-type calcium channel gene mutated in incomplete X-linked congenital stationary night blindness
10. Loss-of-function mutations in a calcium-channel alpha 1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness
11. A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterisation of splice variants
12. Novel CACNA1F mutations in Japaniese patients with incomplete congenital stationary nightblindnes
13. ERG in a case of X-chromosomal pigment deficiency of fundus in inombination with mypoia, dyschromatopsia and defective dark-adaptation. The Clinical Value of Electroretinography, ISCERG Symp
14. Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis
15. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
16. RPGR mutation analysis in patients with retinitis pigmentosa and congenital stationar night blindness
17. Channel hands
18. Clinical and electroretinographic comparison between Aland Island eye disease and a newly found related disease with X-chromosomal inheritance
19. Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome
20. Aland Island eye disease (Forsius-Eriksson Syndrome) associated with contiguous deletion syndrome at Xp21 similarity to incomplete congenital stationary night blindness
21. Retinal degeneration is rescued in transgenic rd mice by expression of the cGMP phosphodiesterase ß subunit
22. PCR analysis of DNA from 70-year-old sections of rodless retina demonstrates identity with the mouse rd defect
23. A new congenital cataract in the mouse
24. Rodent models of congenital and hereditary cataract in man
25. Localization and quantitation of opsin and transducin mRNAs in bovine retina by in situ hybridization histochemistry
26. Molecular cloning of the murine JAK1 protein tyrosine kinase and its expression in the mouse central nervous system
27. Constitutive 'light' adaptation in rods from G90D rhodopsin: A mechanism for human congenital night blindness without rod cell loss
28. Heterozygous missense in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness
29. Instability and decay of the primary structure of DNA
30. Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F
31. Dependence of photoreceptor glutamate release on a dihydropyridin-sensitive calcium channel
32. Submillisecond kinetics of glutamate release from a sensory synapse
33. Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindess
34. 1F calcium channel subunit in the rat retina
35. 1calcium channel subunit by photoreceptors in the rat retina