Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders

American Journal of Human Genetics

Volumn 85, Issue 2, 2009, Pages 240-247

  Thiadens, Alberta A H J ^a,b   den Hollander, Anneke I ^b,c   Roosing, Susanne ^b   Nabuurs, Sander B ^b,c   Zekveld Vroon, Renate C ^a   Collin, Rob W J ^b,c   De Baere, Elfride ^d   Koenekoop, Robert K ^e   van Schooneveld, Mary J ^f   Strom, Tim M ^g   van Lith Verhoeven, Janneke J C ^b   Lotery, Andrew J ^h   van Moll Ramirez, Norka ⁱ   Leroy, Bart P ^d   van den Born, L Ingeborgh ^j   Hoyng, Carel B ^b   Cremers, Frans P M ^b,c   Klaver, Caroline C W ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d GHENT UNIVERSITY HOSPITAL   (Belgium)

^e MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^f NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^g INSTITUTE OF EPIDEMIOLOGY   (Germany)

^h UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

ⁱ Sensis Grave ^*  (Netherlands)

^j ROTTERDAM EYE HOSPITAL   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC GMP PHOSPHODIESTERASE; DNA;

ADULT; ALPHA CHAIN; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CLINICAL FEATURE; COLOR BLINDNESS; CONE DYSTROPHY; CONTROLLED STUDY; DNA SEQUENCE; ELECTRORETINOGRAPHY; FRAMESHIFT MUTATION; GENE; GENE MAPPING; GENOTYPE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR MODEL; NONHUMAN; ONSET AGE; OPTICAL COHERENCE TOMOGRAPHY; PDE 6C GENE; PEDIGREE; PHENOTYPE; PHOTOTRANSDUCTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; RETINA CONE; RETINA DYSTROPHY; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SPLICING DEFECT;

BASE SEQUENCE; CASE-CONTROL STUDIES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 10; COLOR VISION DEFECTS; CONSANGUINITY; CYCLIC NUCLEOTIDE PHOSPHODIESTERASES, TYPE 6; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; FRAMESHIFT MUTATION; GENES, RECESSIVE; GENOME-WIDE ASSOCIATION STUDY; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINAL CONE PHOTORECEPTOR CELLS;

EID: 68349107942     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.06.016     Document Type: Article

References (22)

1. Michaelides M., Hunt D.M., and Moore A.T. The cone dysfunction syndromes. Br. J. Ophthalmol. 88 (2004) 291-297
2. Hamel C.P. Cone rod dystrophies. Orphanet J. Rare Dis. 2 (2007) 1-7
3. Michaelides M., Hardcastle A.J., Hunt D.M., and Moore A.T. Progressive cone and cone-rod dystrophies: Phenotypes and underlying molecular genetic basis. Surv. Ophthalmol. 51 (2006) 232-258
4. Kohl S., Baumann B., Rosenberg T., Kellner U., Lorenz B., Vadala M., Jacobson S.G., and Wissinger B. Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am. J. Hum. Genet. 71 (2002) 422-425
5. Kohl S., Varsanyi B., Antunes G.A., Baumann B., Hoyng C.B., Jagle H., Rosenberg T., Kellner U., Lorenz B., Salati R., et al. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur. J. Hum. Genet. 13 (2005) 302-308
6. Wissinger B., Gamer D., Jagle H., Giorda R., Marx T., Mayer S., Tippmann S., Broghammer M., Jurklies B., Rosenberg T., et al. CNGA3 mutations in hereditary cone photoreceptor disorders. Am. J. Hum. Genet. 69 (2001) 722-737
7. Thiadens A.A.H.J., Slingerland N.W.R., Roosing S., van Schooneveld M.J., van Lith-Verhoeven J.J.C., van Moll-Ramirez N., van den Born L.I., Hoyng C.B., Cremers F.P.M., and Klaver C.C.W. Genetic etiology and clinical consequences of complete and incomplete achromatopsia. Ophthalmology (2009) in press
8. Jiang L., Katz B.J., Yang Z., Zhao Y., Faulkner N., Hu J., Baird J., Baehr W., Creel D.J., and Zhang K. Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A). Mol. Vis. 11 (2005) 143-151
9. Nishiguchi K.M., Sokal I., Yang L., Roychowdhury N., Palczewski K., Berson E.L., Dryja T.P., and Baehr W. A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration. Invest. Ophthalmol. Vis. Sci. 45 (2004) 3863-3870
10. Vervoort R., Lennon A., Bird A.C., Tulloch B., Axton R., Miano M.G., Meindl A., Meitinger T., Ciccodicola A., and Wright A.F. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat. Genet. 25 (2000) 462-466
11. Demirci F.Y., Rigatti B.W., Wen G., Radak A.L., Mah T.S., Baic C.L., Traboulsi E.I., Alitalo T., Ramser J., and Gorin M.B. X-linked cone-rod dystrophy (locus COD1): Identification of mutations in RPGR exon ORF15. Am. J. Hum. Genet. 70 (2002) 1049-1053
12. Kitiratschky V.B., Grau T., Bernd A., Zrenner E., Jagle H., Renner A.B., Kellner U., Rudolph G., Jacobson S.G., Cideciyan A.V., et al. ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. Eur. J. Hum. Genet. 16 (2008) 812-819
13. Wycisk K.A., Zeitz C., Feil S., Wittmer M., Forster U., Neidhardt J., Wissinger B., Zrenner E., Wilke R., Kohl S., et al. Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. Am. J. Hum. Genet. 79 (2006) 973-977
14. Michaelides M., Aligianis I.A., Ainsworth J.R., Good P., Mollon J.D., Maher E.R., Moore A.T., and Hunt D.M. Progressive cone dystrophy associated with mutation in CNGB3. Invest. Ophthalmol. Vis. Sci. 45 (2004) 1975-1982
15. Thiagalingam S., McGee T.L., Weleber R.G., Sandberg M.A., Trzupek K.M., Berson E.L., and Dryja T.P. Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram. Ophthalmic Genet. 28 (2007) 135-142
16. Wissinger B., Dangel S., Jagle H., Hansen L., Baumann B., Rudolph G., Wolf C., Bonin M., Koeppen K., Ladewig T., et al. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. Invest. Ophthalmol. Vis. Sci. 49 (2008) 751-757
17. Marmor M.F., Fulton A.B., Holder G.E., Miyake Y., Brigell M., and Bach M. ISCEV Standard for full-field clinical electroretinography (2008 update). Doc. Ophthalmol. 118 (2009) 69-77
18. Burns M.E., and Baylor D.A. Activation, deactivation, and adaptation in vertebrate photoreceptor cells. Annu. Rev. Neurosci. 24 (2001) 779-805
19. Martinez S.E., Heikaus C.C., Klevit R.E., and Beavo J.A. The structure of the GAF A domain from phosphodiesterase 6C reveals determinants of cGMP binding, a conserved binding surface, and a large cGMP-dependent conformational change. J. Biol. Chem. 283 (2008) 25913-25919
20. Reese M.G., Eeckman F.H., Kulp D., and Haussler D. Improved splice site detection in Genie. J. Comput. Biol. 4 (1997) 311-323
21. Stearns G., Evangelista M., Fadool J.M., and Brockerhoff S.E. A mutation in the cone-specific pde6 gene causes rapid cone photoreceptor degeneration in zebrafish. J. Neurosci. 27 (2007) 13866-13874
22. Nishiwaki Y., Komori A., Sagara H., Suzuki E., Manabe T., Hosoya T., Nojima Y., Wada H., Tanaka H., Okamoto H., et al. Mutation of cGMP phosphodiesterase 6alpha'-subunit gene causes progressive degeneration of cone photoreceptors in zebrafish. Mech. Dev. 125 (2008) 932-946