New ZNF644 mutations identified in patients with high myopia

Molecular Vision

Volumn 20, Issue , 2014, Pages 939-946

  Xiang, Xinying ^a   Wang, Tianyun ^a   Tong, Ping ^b   Li, Yunping ^b   Guo, Hui ^a   Wan, Anran ^a   Xia, Lu ^a   Liu, Yanling ^a   Li, Ying ^a   Tian, Qi ^a   Shen, Lu ^a   Cai, Xinzhang ^a   Tian, Lei ^c   Jin, Xuemin ^c   Xia, Kun ^a   Hu, Zhengmao ^a  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

^c THE FIRST AFFILIATED HOSPITAL OF ZHENGZHOU UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

5' UNTRANSLATED REGION; ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHINESE; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA ISOLATION; EXON; FEMALE; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC SCREENING; GENETIC VARIABILITY; HIGH MYOPIA; HUMAN; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; SYNONYMOUS MUTATION; ZNF644 GENE;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; MYOPIA; POLYMORPHISM, SINGLE NUCLEOTIDE; REFRACTIVE ERRORS; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84903880717     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (25)

1. Curtin BJ, Karlin DB. Axial length measurements and fundus changes of the myopic eye. Am J Ophthalmol 1971; 71: 42-53. [PMID: 5099937].
2. Sperduto RD, Seigel D, Roberts J, Rowland M. Prevalence of myopia in the United States. Arch Ophthalmol 1983; 101: 405-7. [PMID: 6830491].
3. Sawada A, Tomidokoro A, Araie M, Iwase A, Yamamoto T. Tajimi Study G. Refractive errors in an elderly Japanese population: the Tajimi study. Ophthalmology 2008; 115: 363-70. [PMID: 18243904].
4. He M, Zheng Y, Xiang F. Prevalence of myopia in urban and rural children in mainland China. Optom Vis Sci 2009; 86: 40-4. [PMID: 19104465].
5. Wong TY, Foster PJ, Hee J, Ng TP, Tielsch JM, Chew SJ, Johnson GJ, Seah SK. Prevalence and risk factors for refractive errors in adult Chinese in Singapore. Invest Ophthalmol Vis Sci 2000; 41: 2486-94. [PMID: 10937558].
6. Frick KD, Gower EW, Kempen JH, Wolff JL. Economic impact of visual impairment and blindness in the United States. Arch Ophthalmol 2007; 125: 544-50. [PMID: 17420375].
7. Rein DB, Zhang P, Wirth KE, Lee PP, Hoerger TJ, McCall N, Klein R, Tielsch JM, Vijan S, Saaddine J. The economic burden of major adult visual disorders in the United States. Arch Ophthalmol 2006; 124: 1754-60. [PMID: 17159036].
8. Young TL. Dissecting the genetics of human high myopia: a molecular biologic approach. Trans Am Ophthalmol Soc 2004; 102: 423-45. [PMID: 15747770].
9. Dirani M, Shekar SN, Baird PN. The role of educational attainment in refraction: the Genes in Myopia (GEM) twin study. Invest Ophthalmol Vis Sci 2008; 49: 534-8. [PMID: 18234996].
10. Lopes MC, Andrew T, Carbonaro F, Spector TD, Hammond CJ. Estimating heritability and shared environmental effects for refractive error in twin and family studies. Invest Ophthalmol Vis Sci 2009; 50: 126-31. [PMID: 18757506].
11. Teikari JM, O'Donnell J, Kaprio J, Koskenvuo M. Impact of heredity in myopia. Hum Hered 1991; 41: 151-6. [PMID: 1937488].
12. Paluru PC, Nallasamy S, Devoto M, Rappaport EF, Young TL. Identification of a novel locus on 2q for autosomal dominant high-grade myopia. Invest Ophthalmol Vis Sci 2005; 46: 2300-7. [PMID: 15980214].
13. Klein AP, Duggal P, Lee KE, Klein R, Bailey-Wilson JE, Klein BE. Confirmation of linkage to ocular refraction on chromosome 22q and identification of a novel linkage region on 1q. Arch Ophthalmol 2007; 125: 80-5. [PMID: 17210856].
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: 281-6. [PMID: 1980096].
15. Nakanishi H, Yamada R, Gotoh N, Hayashi H, Yamashiro K, Shimada N, Ohno-Matsui K, Mochizuki M, Saito M, Iida T, Matsuo K, Tajima K, Yoshimura N, Matsuda F. A genome-wide association analysis identified a novel susceptible locus for pathological myopia at 11q24.1. PLoS Genet 2009; 5: e1000660-[PMID: 19779542].
16. Lam CY, Tam PO, Fan DS, Fan BJ, Wang DY, Lee CW, Pang CP, Lam DS. A genome-wide scan maps a novel high myopia locus to 5p15. Invest Ophthalmol Vis Sci 2008; 49: 3768-78. [PMID: 18421076].
17. Young TL, Metlapally R, Shay AE. Complex trait genetics of refractive error. Arch Ophthalmol 2007; 125: 38-48. [PMID: 17210850].
18. Yu ZQ, Li YB, Huang CX, Chu RY, Hu DN, Shen ZH, Huang W. A genome-wide screening for pathological myopia suggests a novel locus on chromosome 15q12-13 Zhonghua Yan Ke Za Zhi 2007; 43: 233-8. [PMID: 17605906].
19. Inamori Y, Ota M, Inoko H, Okada E, Nishizaki R, Shiota T, Mok J, Oka A, Ohno S, Mizuki N. The COL1A1 gene and high myopia susceptibility in Japanese. Hum Genet 2007; 122: 151-7. [PMID: 17557158].
20. Shi Y, Li Y, Zhang D, Zhang H, Li Y, Lu F, Liu X, He F, Gong B, Cai L, Li R, Liao S, Ma S, Lin H, Cheng J, Zheng H, Shan Y, Chen B, Hu J, Jin X, Zhao P, Chen Y, Zhang Y, Lin Y, Li X, Fan Y, Yang H, Wang J, Yang Z. Exome sequencing identifies ZNF644 mutations in high myopia. PLoS Genet 2011; 7: e1002084-[PMID: 21695231].
21. Tran-Viet KN, St Germain E, Soler V, Powell C, Lim SH, Klemm T, Saw SM, Young TL. Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility. Mol Vis 2012; 18: 937-44. [PMID: 22539872].
22. Verhoeven VJ, Hysi PG, Wojciechowski R, Fan Q, Guggenheim JA, Hohn R, MacGregor S, Hewitt AW, Nag A, Cheng CY, Yonova-Doing E, Zhou X, Ikram MK, Buitendijk GH, McMahon G, Kemp JP, Pourcain BS, Simpson CL, Makela KM, Lehtimaki T, Kahonen M, Paterson AD, Hosseini SM, Wong HS, Xu L, Jonas JB, Parssinen O, Wedenoja J, Yip SP, Ho DW, Pang CP, Chen LJ, Burdon KP, Craig JE, Klein BE, Klein R, Haller T, Metspalu A, Khor CC, Tai ES, Aung T, Vithana E, Tay WT, Barathi VA. Consortium for Refractive E, Myopia, Chen P, Li R, Liao J, Zheng Y, Ong RT, Doring A, Diabetes C, Complications Trial/Epidemiology of Diabetes I, Complications Research G, Evans DM, Timpson NJ, Verkerk AJ, Meitinger T, Raitakari O, Hawthorne F, Spector TD, Karssen LC, Pirastu M, Murgia F, Ang W, Wellcome Trust Case Control C, Mishra A, Montgomery GW, Pennell CE, Cumberland PM, Cotlarciuc I, Mitchell P, Wang JJ, Schache M, Janmahasatian S, Igo RP, Jr., Lass JH, Chew E, Iyengar SK, Fuchs' Genetics Multi-Center Study G, Gorgels TG, Rudan I, Hayward C, Wright AF, Polasek O, Vatavuk Z, Wilson JF, Fleck B, Zeller T, Mirshahi A, Muller C, Uitterlinden AG, Rivadeneira F, Vingerling JR, Hofman A, Oostra BA, Amin N, Bergen AA, Teo YY, Rahi JS, Vitart V, Williams C, Baird PN, Wong TY, Oexle K, Pfeiffer N, Mackey DA, Young TL, van Duijn CM, Saw SM, Bailey-Wilson JE, Stambolian D, Klaver CC, Hammond CJ. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nat Genet 2013; 45: 314-8. [PMID: 23396134].
23. Aldahmesh MA, Khan AO, Alkuraya H, Adly N, Anazi S, Al-Saleh AA, Mohamed JY, Hijazi H, Prabakaran S, Tacke M, Al-Khrashi A, Hashem M, Reinheckel T, Assiri A, Alkuraya FS. Mutations in LRPAP1 Are Associated with Severe Myopia in Humans. Am J Hum Genet 2013; 93: 313-20. [PMID: 23830514].
24. Mordechai S, Gradstein L, Pasanen A, Ofir R, El Amour K, Levy J, Belfair N, Lifshitz T, Joshua S, Narkis G, Elbedour K, Myllyharju J, Birk OS. High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2. Am J Hum Genet 2011; 89: 438-45. [PMID: 21885030].
25. Tran-Viet KN, Powell C, Barathi VA, Klemm T, Maurer-Stroh S, Limviphuvadh V, Soler V, Ho C, Yanovitch T, Schneider G, Li YJ, Nading E, Metlapally R, Saw SM, Goh L, Rozen S, Young TL. Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. Am J Hum Genet 2013; 92: 820-6. [PMID: 23643385].