A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family a rural isolate

European Journal of Human Genetics

Volumn 10, Issue 10, 2002, Pages 638-642

  Rojas, Cecilia V ^a   Santa María, Lorena ^a   Santos, José Luis ^a   Cortés, Fanny ^a   Alliende, María Angélica ^a  

^a UNIVERSITY OF CHILE   (Chile)

Author keywords

ACHM3; CNG channel; CNGB3; Colour blindness; Complete achromatopsia; Mutation analysis

Indexed keywords

ADENOSINE; CATION; CATION CHANNEL; GUANINE; MARKER; NUCLEOTIDE;

ARTICLE; BETA CHAIN; CHILE; CLINICAL ARTICLE; COLOR BLINDNESS; CONSANGUINITY; CONTROLLED STUDY; EXON; FRAMESHIFT MUTATION; GENE MUTATION; GENOTYPE; HUMAN; PEDIGREE ANALYSIS; PHOTORECEPTOR; PRIORITY JOURNAL; RETINA CONE; RNA TRANSLATION; RURAL AREA; SEQUENCE ANALYSIS; STOP CODON; TANDEM REPEAT;

CHROMOSOMES, HUMAN, PAIR 8; COLOR VISION DEFECTS; CONES (RETINA); FEMALE; FRAMESHIFT MUTATION; HUMANS; ION CHANNELS; MALE; PEDIGREE;

EID: 0036801880     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200856     Document Type: Article

References (15)

1. Jäger W: Genetics of congenital colour deficiencies; Autrum VH, Jung R, Loewenstein D (eds): Handbook of Sensory Physiology. Heidelberg: Springer; 1972; pp 625-669.
2. Arbour NC, Zlotogora J, Knowlton R et al: Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling. Hum Mol Genet 1997; 6: 689-694.
3. Wissinger B, Jägle H, Kohl S et al: Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11. Genomics 1998; 51: 325-331.
4. Milunsky A, Huang XL, Milunsky J, DeStefano A, Baldwin CT: A locus for autosomal recessive achromatopsia on human chromosome 8q. Clin Genet 1999; 56: 82-85.
5. Winick JD, Blundell MI, Galke BL, Salam AA, Leal SM, Karayiorgou M: Homozygosity mapping of the achromatopsia locus in the Pingelapese. Am J Hum Genet 1999; 64: 1679-1685.
6. Kohl S, Marx T, Gidding I et al: Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel. Nature Genet 1998; 19: 257-259.
7. Sundin OH, Yang JM, Li Y, Zhu D, Hurd JN: Genetic basis of colourblindness among the Pingelapese islanders. Nature Genet 2000; 25: 289-293.
8. 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.
9. Wissinger B, Gamer D, Jägle H et al: CNGA3 mutations In hereditary cone photoreceptor disorders. Am J Hum Genet 2001; 69: 722-737.
10. Cortés F, Alliende MA, Verdaguer J, Frías D: Analysis of an isolated population with high Incidence of Achromatopsia: Inbreeding coeficient and clinical diagnosis. Rev Brasil Genet 1992; 15: 112.
11. Lathrop GM, Lalouel JM, Julier C, Ott J: Strategies for multilocus analysis in humans. Proc Natl Acad sci USA 1984; 81: 3443-3446.
12. Freimer NB, Sandkuijl LA, Blower SM: Incorrect specification of marker allele frequencies: effects on linkage analysis. Am J Hum Genet 1993; 52: 1102-1110.
13. Medrano, J, Aasen E, Sharrow L: DNA extraction from nucleated red blood cells. Biotechniques 1990; 8: 43.
14. Bassam BJ, Caetano-Anolles G, Gresshoff PM: Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal Biochem 1991; 196: 80-83.
15. Sundin OH, Yang JM, Li Y, Zhu D, Hurd JN: Genetic basis of colour-blindness among the Pingelapese islanders. Nature Genet 2000; 25: 289-293.