Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes

Genetics in Medicine

Volumn 14, Issue 12, 2012, Pages 955-962

  Aldahmesh, Mohammed A ^a   Khan, Arif O ^a,b   Mohamed, Jawahir Y ^a   Hijazi, Hadia ^a   Al Owain, Mohammed ^a,c   Alswaid, Abdulrahman ^d   Alkuraya, Fowzan S ^a,c,e  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^c ALFAISAL UNIVERSITY   (Saudi Arabia)

^d KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^e KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

Author keywords

autozygosity; crystallin; EPHA2; exome; FYCO1; GCNT2

Indexed keywords

CRYSTALLIN; STEROL 14ALPHA DEMETHYLASE;

ALDO KETOREDUCTASE FAMILY 1 MEMBER E2 GENE; ALLELE; ARTICLE; CATARACT; CHILDHOOD DISEASE; CLINICAL ARTICLE; DOMINANT GENE; EXOME; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENETIC ANALYSIS; GENOMICS; HUMAN; HUMAN TISSUE; MFSD6L GENE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; RENALASE GENE; RNA SPLICING; SAUDI ARABIA;

BETA-CRYSTALLIN B CHAIN; CATARACT; CHILD; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EXOME; EYE PROTEINS; FEMALE; FOUNDER EFFECT; GENETIC ASSOCIATION STUDIES; GENOME, HUMAN; HOMOZYGOTE; HUMANS; INTERMEDIATE FILAMENT PROTEINS; MALE; MONOAMINE OXIDASE; MUTATION, MISSENSE; N-ACETYLGLUCOSAMINYLTRANSFERASES; RECEPTOR, EPHA2; SAUDI ARABIA; STEROL 14-DEMETHYLASE; TRANSCRIPTION FACTORS;

EID: 84870696384     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2012.86     Document Type: Article

References (30)

1. Tardieu A. alpha-Crystallin quaternary structure and interactive properties control eye lens transparency. Int J Biol Macromol 1998;22:211-217.
2. Donner AL, Lachke SA, Maas RL. Lens induction in vertebrates: variations on a conserved theme of signaling events. Semin Cell Dev Biol 2006;17: 676-685. (Pubitemid 46157108)
3. Delaye M, Tardieu A. Short-range order of crystallin proteins accounts for eye lens transparency. Nature 1983;302:415-417. (Pubitemid 13164324)
4. Bermejo E, Martínez-Frías ML. Congenital eye malformations: clinicalepidemiological analysis of 1, 124, 654 consecutive births in Spain. Am J Med Genet 1998;75:497-504. (Pubitemid 28078521)
5. Gilbert C, Foster A. Childhood blindness in the context of VISION 2020-the right to sight. Bull World Health Organ 2001;79(3):227-232. (Pubitemid 32246481)
6. Hejtmancik JF. Congenital cataracts and their molecular genetics. Semin Cell Dev Biol 2008;19:134-149. (Pubitemid 351258371)
7. Huang B, He W. Molecular characteristics of inherited congenital cataracts. Eur J Med Genet 2010;53:347-357.
8. Carr IM, Flintoff KJ, Taylor GR, Markham AF, Bonthron DT. Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families. Hum Mutat 2006;27:1041-1046. (Pubitemid 44454057)
9. Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS. Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula. Br J Ophthalmol 2012; 96:650-655.
10. Borck G, Kakar N, Hoch J, et al. An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group. Hum Genet 2012;131:209-216.
11. Inaba N, Hiruma T, Togayachi A, et al. A novel I-branching beta-1, 6-Nacetylglucosaminyltransferase involved in human blood group I antigen expression. Blood 2003;101:2870-2876. (Pubitemid 36857656)
12. Pras E, Raz J, Yahalom V, et al. A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts. Invest Ophthalmol Vis Sci 2004;45:1940-1945. (Pubitemid 38868993)
13. Yu LC, Twu YC, Chou ML, et al. The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts. Blood 2003;101:2081-2088.
14. Kaul H, Riazuddin SA, Shahid M, et al. Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family. Mol Vis 2010; 16:511-517.
15. Shiels A, Bennett TM, Knopf HL, et al. The EPHA2 gene is associated with cataracts linked to chromosome 1p. Mol Vis 2008;14:2042-2055.
16. Zhang T, Hua R, Xiao W, et al. Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. Hum Mutat 2009;30:E603-E611.
17. Aldahmesh MA, Khan AO, Mohamed J, Alkuraya FS. Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations. Genet Med 2011;13:978-981.
18. Chen J, Ma Z, Jiao X, et al. Mutations in FYCO1 cause autosomal-recessive congenital cataracts. Am J Hum Genet 2011;88:827-838.
19. Monson DM, DeBarber AE, Bock CJ, et al. Cerebrotendinous xanthomatosis: a treatable disease with juvenile cataracts as a presenting sign. Arch Ophthalmol 2011;129:1087-1088.
20. Aldhamesh MA, Khan AO, Mohamed JY, Alghamdi MH, Alkuraya FS. Identification of a truncation mutation of the acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. Hum Mutat. 2012;33:960-962.
21. Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS. Phenotypegenotype Correlation in Potential Female Carriers of X-linked Developmental Cataract (Nance-Horan Syndrome). Ophthalmic Genet 2012; 33:89-95.
22. Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS. Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula. Br J Ophthalmol 2012;96:650-655.
23. Khan AO, Aldahmesh MA, Ghadhfan FE, Al-Mesfer S, Alkuraya FS. Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families. Mol Vis 2009;15:1407-1411.
24. Calvo SE, Compton AG, Hershman SG, et al. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med 2012;4(118):118ra110.
25. Mayr JA, Haack TB, Graf E, et al. Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet 2012; 90:314-320.
26. Lachke SA, Ho JW, Kryukov GV, et al. iSyTE: integrated Systems Tool for Eye gene discovery. Investig Ophthalmol Vis Sci. 2012; 53:1617-1627.
27. Xu J, Li G, Wang P, et al. Renalase is a novel, soluble monoamine oxidase that regulates cardiac function and blood pressure. J Clin Invest 2005;115:1275-1280. (Pubitemid 40629046)
28. Lepesheva GI, Virus C, Waterman MR. Conservation in the CYP51 family. Role of the B' helix/BC loop and helices F and G in enzymatic function. Biochemistry 2003;42:9091-9101. (Pubitemid 36935417)
29. Lepesheva GI, Waterman MR. Sterol 14alpha-demethylase cytochrome P450 (CYP51), a P450 in all biological kingdoms. Biochim Biophys Acta 2007;1770:467-477. (Pubitemid 46136743)
30. Keber R, Motaln H, Wagner KD, et al. Mouse knockout of the cholesterogenic cytochrome P450 lanosterol 14alpha-demethylase (Cyp51) resembles Antley-Bixler syndrome. J Biol Chem 2011;286:29086-29097.