Identification of a novel locus on 2q for autosomal dominant high-grade myopia

Investigative Ophthalmology and Visual Science

Volumn 46, Issue 7, 2005, Pages 2300-2307

  Paluru, Prasuna C ^a   Nallasamy, Sudha ^a   Devoto, Marcella ^b,c   Rappaport, Eric F ^a   Young, Terri L ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DIACYLGLYCEROL KINASE; RETINA S ANTIGEN; DGKD PROTEIN, HUMAN; MICROSATELLITE DNA;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 2Q; CHROMOSOME ARM; CHROMOSOME IDENTIFICATION; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC SCREENING; GENOTYPE; HIGH MYOPIA; HUMAN; LINKAGE ANALYSIS; MALE; PREVALENCE; PRIORITY JOURNAL; REFRACTION ERROR; ADOLESCENT; CHILD; CHROMOSOME 2; CHROMOSOME MAP; DOMINANT GENE; GENETICS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; INFANT; MIDDLE AGED; MYOPIA; NUCLEOTIDE SEQUENCE; ONSET AGE; PEDIGREE; PRESCHOOL CHILD;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; ARRESTIN; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; DIACYLGLYCEROL KINASE; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; GENOTYPE; HUMANS; INFANT; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MYOPIA; PEDIGREE;

EID: 23244458724     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.04-1423     Document Type: Article

References (37)

1. Curtin BJ. Basic science and clinical management. The Myopias. New York: Harper & Row; 1985:237-245.
2. Wang Q, Klein BEK, Klein R, et al. Refractive status in the Beaver Dam Eye Study. Invest Ophthalmol Vis Sci. 1994;35:4344-4347.
3. Sperduto RD, Siegel D, Roberts J, Rowland M. Prevalence of myopia in the United States. Arch Ophthalmol. 1983;101:405-407.
4. Angle J, Wissmann DA. The epidemiology of myopia. Am J Epidemiol. 1980;111:220-228.
5. Wu HM, Seet B, Yap EP, Saw SM, Lim TH, Chia KS. Does education explain ethnic differences in myopia prevalence?-a population-based study of young adult males in Singapore. Optom Vis Sci. 2001;378:234-239.
6. Leibowitz HM, Krueger DE, Maunder LR. The Framingham eye study monograph. Surv Ophthalmol. 1980;24(suppl):472-479.
7. Katz J, Tielsch, JM, Sommer A. Prevalence and risk factors for refractive errors in an adult inner city population. Invest Ophthalmol Vis Sci. 1997;38:334-340.
8. Curtin BJ. Myopia: a review of its etiology, pathogenesis, and treatment. Surv Ophthalmol. 1970;15:1-17.
9. Curtin BJ. Basic science and clinical management. In: The Myopias. New York: Harper & Row; 1985:237-245.
10. Tokoro T, Sato A, eds. Results of Investigation of Pathologic Myopia in Japan: Report of Myopic Chorioretinal Atrophy. Tokyo, Japan: Ministry of Health and Welfare; 1982;32-35.
11. Lin LL, Chen CJ, Hung PT, et al. Nation-wide survey of myopia among school children in Taiwan. Acta Ophthalmol. 1998;66:29-33.
12. Wilson A, Woo G. A review of the prevalence and causes of myopia. Singapore Med J. 1989;30:479-484.
13. Fledelius HC. Myopia prevalence in Scandinavia: a survey, with emphasis on factors of relevance for epidemiological refraction studies in general. Acta Ophthalmol. 1988;185:44-50.
14. Schwartz M, Haim M, Skarsholm D. X-linked myopia: Bornholm eye disease-linkage to DNA markers on the distal part of Xq. Clin Genet. 1990;38:281-286.
15. Young TL, Deeb SS, Ronan SM, et al. X-linked high myopia associated with cone dysfunction. Arch Ophthalmol. 2004;122:897-908.
16. Young TL, Ronan SM, Drahozal LA, et al. Evidence that a locus for familial high myopia maps to chromosome 18p. Am J Hum Genet. 1998;63:109-119.
17. Young TL, Ronan SM, Alvear A, et al. A second locus for familial high myopia maps to chromosome 12q. Am J Hum Genet. 1998; 63:1419-1424.
18. Paluru P, Ronan SM, Heon E, et al. A new locus for autosomal dominant high myopia maps to the long arm of chromosome 17. Invest Ophthalmol Vis Sci. 2003;44:1830-1836.
19. Naiglin L, Gazagne CH, Dallongeville F, et al. A genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36. J Med Genet. 2002;39:118-124.
20. Hammond CJ, Andrew T, Mak YT, Spector TD. A susceptibility locus for myopia in the normal population is linked to the PAX6 gene region on chromosome 11: a genomewide scan of dizygotic twins. Am J Hum Genet. 2004;75:294-304.
21. Stambolian D, Ibay G, Reider L, et al. Genomewide linkage scan for myopia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 22q12. Am J Hum Genet. 2004;75:448-459.
22. Gyapay G, Morissette J, Vignal A, et al. The 1993-1994 Généthon human genetic linkage map. Nat Genet. 1994;7:246-339.
23. Dib C, Faure S, Fizames C, et al. A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature. 1996; 380:152-154.
24. Mukhopadhyay N, Almasy L, Schroeder M, Mulvihill WP, Weeks DE. Mega2, a data handling program for facilitating genetic linkage and association analyses (abstract). Am J Hum Genet. 1999;65: A436.
25. Sobel E, Lange K. Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker sharing statistics. Am J Hum Genet. 1996;58:1323-1337.
26. Sobel E, Sengul H, Weeks DE. Multi-point estimation of identity-by-descent probabilities at arbitrary positions among marker loci on general pedigrees. Hum Hered. 2001;52:121-131.
27. Sobel E, Papp JC, Lange K. Detection and integration of genotyping errors in statistical genetics. Am J Hum Genet. 2002;70:496-508.
28. Lathrop GM, Lalouel JM. Easy calculation of lod scores and genetic risks on small computers. Am J Hum Genet. 1984;36:460-465.
29. Cottingham RW Jr, Idury RM, Schaffer AA. Faster sequential genetic linkage computations. Am J Hum Genet. 1993;53:252-263.
30. Schaffer AA, Gupta SK, Shriram K, Cottingham RW. Avoiding recomputation in linkage analysis. Hum Hered. 1994;44:225-237.
31. Valverde D, Bayes M, Martinez I, et al. Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172. Hum Genet. 1994;94:193-194.
32. Yamaki K, Tsuda M, Kikuchi T, Chen KH, Huang KP, Shinohara T. Structural organization of the human S-antigen gene: cDNA, amino acid, intron, exon, promoter, in vitro transcription, retina, and pineal gland. J Biol Chem. 1990;265:20757-20762.
33. Sakane F, Imai S, Kai M, Wada I, Kanoh H. Molecular cloning of a novel diacylglycerol kinase isozyme with a pleckstrin homology domain and a C-terminal tail similar to those of the EPH family of protein-tyrosine kinases. J Biol Chem. 1996;271:8394-8401.
34. Fuchs S, Nakazawa M, Maw M, Tamai M, Oguchi Y, Gal A. A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. Nat Genet. 1995;10:360-362.
35. Masai I, Okazaki A, Hosoya T, Hotta Y. Drosophila retinal degeneration A gene encodes an eye-specific diacylglycerol kinase with cysteine-rich zinc-finger motifs and ankyrin repeats. Proc Natl Acad Sci USA. 1993;90:11157-11161.
36. Kai M, Sakane F, Imai S, Wada I, Kanoh H. Molecular cloning of a diacylglycerol kinase isozyme predominantly expressed in human retina with a truncated and inactive enzyme expression in most other human cells. J Biol Chem. 1994;269:18492-18498.
37. Sakane F, Imai S, Yamada K, Murakami T, Tsushima S, Kanoh H. Alternative splicing of the human diacylglycerol kinase delta gene generates two isoforms differing in their expression patterns and in regulatory functions. J Biol Chem. 2002;277:43519-43526.