CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

European Journal of Human Genetics

Volumn 13, Issue 3, 2005, Pages 302-308

  Kohl, Susanne ^a   Varsanyi, Balazs ^a,b   Antunes, Gesine Abadin ^a   Baumann, Britta ^a   Hoyng, Carel B ^c   Jägle, Herbert ^a   Rosenberg, Thomas ^d   Kellner, Ulrich ^e   Lorenz, Birgit ^f   Salati, Roberto ^g   Jurklies, Bernhard ^h   Farkas, Agnes ^b   Andreasson, Sten ⁱ   Weleber, Richard G ^j   Jacobson, Samuel G ^k   Rudolph, Günther ^l   Castellan, Claudio ^m   Dollfus, Helene ⁿ   Legius, Eric ^o   Anastasi, Mario ^p   Bitoun, Pierre ^q   Lev, Dorit ^r   Sieving, Paul A ^s   Munier, Francis L ^t   Zrenner, Eberhart ^a   Sharpe, Lindsay T ^a   Cremers, Frans P M ^c   Wissinger, Bernd ^a   more..

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b SEMMELWEIS UNIVERSITY   (Hungary)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d National Eye Clinic for the Visually Impaired Denmark   (Denmark)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^f UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^g SCIENTIFIC INSTITUTE   (Italy)

^h UNIVERSITY HOSPITAL ESSEN   (Germany)

ⁱ Diocese of Lund Church of Sweden   (Sweden)

^j CASEY EYE INSTITUTE   (United States)

^k UNIVERSITY OF PENNSYLVANIA   (United States)

^l LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^m Regional Hospital Bozen   (Italy)

ⁿ HÔPITAL DE HAUTEPIERRE   (France)

^o UNIVERSITY OF LEUVEN   (Belgium)

^p UNIVERSITY OF PALERMO   (Italy)

^q HÔPITAL JEAN VERDIER   (France)

^r WOLFSON MEDICAL CENTER   (Israel)

^s NATIONAL EYE INSTITUTE   (United States)

^t Hôpital Jules Bonin   (Switzerland)

more..

Author keywords

ACHM3 locus; Achromatopsia; CNGB3 mutations; Cyclic nucleotide gated channel; Rod monochromacy; Total colorblindness

Indexed keywords

CATION CHANNEL; CYCLIC NUCLEOTIDE; POLYPEPTIDE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 8Q; COLOR BLINDNESS; CONTROLLED STUDY; DNA SPLICING; EUROPE; GENE DELETION; GENE INSERTION; GENE LOCUS; GENE MUTATION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PATHOGENESIS; PREVALENCE; PRIORITY JOURNAL;

EID: 20144382218     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201269     Document Type: Article

References (28)

1. Hess RF, Sharpe LT, Nordby K (eds): Night Vision: Basic, Clinical and Applied Aspects. Cambridge: Cambridge University Press, 1990.
2. Kohl S, Marx T, Giddings I et al: Total colorblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel. Nat Genet 1998; 19: 257-259.
3. Kohl S, Baumann B, Broghammer M et al: Mutations in the CNGB3 gene encoding the β-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum Mol Genet 2000; 9: 2107-2116.
4. Sundin OH, Yang JM, Li Y: Genetic basis of total colourblindness among the Pingelapese islanders. Nat Genet 2000; 25: 289-293.
5. Kohl S, Baumann B, Rosenberg T et al: Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet 2002; 71: 422-425.
6. Aligianis IA, Forshew T, Johnson S et al: Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). J Med Genet 2002; 39: 656-660.
7. Müller F, Kaupp UB: Signaltransduktion in Sehzellen. Naturwissenschaften 1998; 85: 49-61.
8. Wissinger B, Gamer D, Jagle H et al: CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet 2001; 69 722-737.
9. Rojas CV, Maria LS, Santos JL, Cortes F, Alliende MA: A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate. Eur J Hum Genet 2002; 10: 638-642.
10. Johnson S, Michaelides M, Aligianis IA et al: Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. J Med Genet 2004; 41: e20.
11. Jägle H, Kohl S, Apfelstedt-Sylla E, Wissinger B, Sharpe LT: Manifestations of rod monochromacy. Col Res Appl 2001; 26 S96-S99.
12. Eksandh L, Kohl S, Wissinger B: Clinical features of achromatopsia in Swedish patients with defined genotypes. Ophthal Genet 2002; 23: 109-120.
13. Kellner U, Wissinger B, Kohl S, Kraus H, Foerster MH: Molecular genetic findings in patients with congenital cone dysfunction: mutations in the CNGA3, CNGB3, or GNAT2 genes. Ophthalmologe 2004; 101: 830-835.
14. Peng C, Rich ED, Thor CA, Varnum MD: Functionally important calmodulin binding sites in both N- and C-terminal regions of the cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit. J Biol Chem 2003; 278: 24617-24623.
15. Sheffield VC: The vision of typhoon lengkieki. Nat Med 2000; 6: 746-747.
16. Peng C, Rich ED, Varnum MD: Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels. J Biol Chem 2003; 278: 34533-34540.
17. Dryja TP, McGee TL, Reichel E et al: A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 1990; 343: 364-366.
18. Stone EM, Lotery AJ, Munier FL et al: A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet 1999; 22: 199-202.
19. Maugeri A, Flothmann K, Hemmrich N et al: The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. Eur J Hum Genet 2002; 10: 197-203.
20. Michaelides M, Aligianis IA, Ainsworth JR et al: Progressive cone dystrophy associated with mutation in CNGB3. Invest Ophthalmol Vis Sci 2004; 45: 1975-1982.
21. Trankner D, Jagle H, Kohl S et al: Molecular basis of an inherited form of incomplete achromatopsia. J Neurosci 2004; 24: 138-147.
22. Peng C, Rich ED, Varnum MD: Subunit configuration of heteromeric cone cyclic nucleotide-gated channels. Neuron 2004; 42: 401-410.
23. Wissinger B, Müller F, Weyand I et al: Cloning, chromosomal localization and functional expression of the gene encoding the α-subunit of the cGMP-gated channel in human cone photoreceptors. Eur J Neurosci 1997; 9: 2512-2521.
24. Gerstner A, Zong X, Hofmann F, Biel M: Molecular cloning and functional characterization of a new modulatory cyclic nucleotide-gated channel subunit from mouse retina. J Neurosci 2000; 20: 1324-1332.
25. Sidjanin DJ, Lowe JK, McElwee JL et al: Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. Hum Mol Genet 2002; 11: 1823-1833.
26. Aguirre GD, Rubin LF: The electroretinogram in dogs with inherited cone degeneration. Invest Ophthalmol 1975; 14: 840-847.
27. Aguirre GD, Rubin LF: Pathology of hemeralopia in the Alaskan malamut dog. Invest Ophthalmol 1974; 13: 231-235.
28. Gropp KE, Szel A, Huang JC, Acland GM, Farber DB, Aguirre GD: Selective absence of cone outer segment beta 3-transducin immunoreactivity in hereditary cone degeneration (cd). Exp Eye Res 1996; 63: 285-296.