Characterization of CTNS mutations in Arab patients with Cystinosis Characterization of CTNS mutations in Arab patients with Cystinosis

Ophthalmic Genetics

Volumn 30, Issue 4, 2009, Pages 185-189

  Aldahmesh, Mohammed A ^a   Humeidan, Amal ^a   Almojalli, Hamad A ^a   Khan, Arif O ^a,b   Rajab, Mohammed ^a   Al Abbad, Abbas A ^a   Meyer, Brian F ^a   Alkuraya, Fowzan S ^a,c,d  

^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 UNIVERSITY   (Saudi Arabia)

Author keywords

Cystinosin; Deletion

Indexed keywords

ARAB; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTINOSIN GENE; CYSTINOSIS; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; INTRON; MISSENSE MUTATION; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; ARABS; BASE SEQUENCE; CORNEAL DISEASES; CYSTINOSIS; DNA MUTATIONAL ANALYSIS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SAUDI ARABIA; SEQUENCE ANALYSIS, DNA;

EID: 70350437396     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810903200953     Document Type: Article

References (16)

1. Gahl WA. Cystinosis coming of age. Adv Pediatr. 1986;33:95-126.
2. Kalatzis V, Cohen-Solal L, Cordier B, Frishberg Y, Kemper M, Nuutinen EM, Legrand E, Cochat P, Antignac C. Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis. Hum Mutat. 2002;20:439-446.
3. Cogan DG, Kuwabara T, Kinoshit A J, Sheehan L, Merola L. Cystinosis in an adult. J Am Med Assoc. 1957;164: 394-396.
4. Anikster Y, Lucero C, Guo J, Huizing M, Shotelersuk V, Bernardini I, McDowell G, Iwata F, Kaiser-Kupfer MI, Jaffe R, Thoene J, Schneider JA, Gahl WA. Ocular nonnephropathic cystinosis: Clinical, biochemical, and molecular correlations. Pediatr Res. 2000;47:17-23.
5. Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, van't Hoff W, Antignac C. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet. 1998;18:319-324
6. Touchman JW, Anikster Y, Dietrich NL, Maduro VV, McDowell G, Shotelersuk V, Bouffard GG, Beckstrom-Sternberg SM, Gahl WA, Green ED. The genomic region encompassing the nephropathic cystinosis gene (CTNS): Complete sequencing of a 200- kb segment and discovery of a novel gene within the common cystinosis-causing deletion. Genome Res. 2000;10:165-173.
7. Cherqui S, Kalatzis V, Trugnan G, Antignac C. The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif. J Biol Chem. 2001;276:13314-13321.
8. Touchman JW, Anikster Y, Dietrich NL, Maduro VV, McDowell G, Shotelersuk V, Bouffard GG, Beckstrom-Sternberg SM, Gahl WA, Green ED. The genomic region encompassing the nephropathic cystinosis gene (CTNS): Complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion. Genome Res. 2000;10:165-173.
9. Shotelersuk V, Larson D, Anikster Y, McDowell G, Lemons R, Bernardini I, Guo J, Thoene J, Gahl WA. CTNS mutations in an American-based population of cystinosis patients. Am J Hum Genet. 1998;63:1352-1362.
10. Kalatzis V, Cohen-Solal L, Cordier B, Frishberg Y, Kemper M, Nuutinen EM, Legrand E, Cochat P, Antignac C. Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis. Hum Mutat. 2002;20:439-446.
11. Gahl WA, Kuehl EM, Iwata F, Lindblad A, Kaiser- Kupfer MI. Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops. Mol Genet Metab. 2000;71:100-120.
12. Anikster Y, Lucero C, Guo J, Huizing M, Shotelersuk V, Bernardini I, McDowell G, Iwata F, Kaiser- Kupfer MI, Jaffe R, Thoene J, Schneider JA, Gahl WA. Ocular nonnephropathic cystinosis: Clinical, biochemical, and molecular correlations. Pediatr Res. 2000;47:17-23.
13. Kalatzis V, Nevo N, Cherqui S, Gasnier B, Antignac C. Molecular pathogenesis of cystinosis: Effect of CTNS mutations on the transport activity and subcellular localization of cystinosin. Hum Mol Genet. 2004;13: 1361-1371.
14. Attard M, Jean G, Forestier L, Cherqui S, van't Hoff W, Broyer M, Antignac C, Town M. Severity of phenotype in cystinosis varies with mutations in the CTNS gene: Predicted effect on the model of cystinosin. Hum Mol Genet. 1999;8:2507-2514.
15. D'Souza I, Poorkaj P, Hong M, Nochlin D, Lee VM, Bird TD, Schellenberg GD. Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonismchromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements. Proc Natl Acad Sci U S A. 1999;96:5598-5603.
16. Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature. 2003;423:293-298.