R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE

Annals of Human Genetics

Volumn 73, Issue 1, 2009, Pages 125-130

  Abdulrazzaq, Yousef M ^a   Ibrahim, Ahmed ^b   Al khayat, Abdullah I ^c   Nagelkerke, Nicolaas ^a   Ali, Bassam R ^a  

^a UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^b Al Wasl Hospital   (United Arab Emirates)

^c Department of Health and Medical Services ^*  (United Arab Emirates)

Author keywords

Alkaptonuria; Gas chromatography mass spectrometry; HGD Gene; Homogentisic acid; UAE

Indexed keywords

AMINO ACID; ARGININE; GENOMIC DNA; HOMOGENTISIC ACID;

ADULT; ALKAPTONURIA; ARTHRALGIA; ARTICLE; CONTROLLED STUDY; DNA FLANKING REGION; DNA ISOLATION; DNA SPLICING; DUBAI; EXON; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GAS CHROMATOGRAPHY; GENE AMPLIFICATION; GENE DELETION; GENE FREQUENCY; GENE LOCATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; INTRON; LEUKOCYTE; MAJOR CLINICAL STUDY; MALE; MASS SPECTROMETRY; PATIENT SELECTION; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; PREVALENCE; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED ARAB EMIRATES; URINALYSIS;

ALKAPTONURIA; BASE SEQUENCE; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENOTYPE; HOMOGENTISATE 1,2-DIOXYGENASE; HOMOGENTISIC ACID; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; SEQUENCE DELETION; UNITED ARAB EMIRATES;

EID: 58149313673     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2008.00485.x     Document Type: Article

References (27)

1. Abdulrazzaq, Y. M., Bener, A., Al-Gazali, L. I., et al. (1997) A study of possible deleterious effects of consanguineous marriages. Clinical Genetics 51, 167-173.
2. Al Essa, M., Al-Shamsan, L., Rashed, M. S., et al. (1998) Alkaptonuria: Case report and review of the literature. Ann Saudi Med 18(5), 442-4.
3. Al-Gazali, L. I., Dawodu, A. H., Sabarinathan, K., et al. (1995) The profile of major congenital abnormalities in the United Arab Emirates (UAE) population. J Med Genet 32(1), 7-13.
4. Beltrán-Valero de Bernabé, D., Granadino, B., Chiarelli, I., et al. (1998) Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients. Am J Hum Genet 62, 776-784.
5. Cohn, R. M., Updegrove, S., Yandrasitz, J. R., et al. (1978) Evaluation of continuous solvent extraction of organic acids from biological fluids. Clin Biochem 11(3), 126-130.
6. Fernandez-Canon, J. M., Penalva, M. A. (1995) Molecular characterization of a gene encoding a homogentisate dioxygenase from Aspergillus nidulans and identification of its human and plant homologues. J Biol Chem 270(36), 21199-205.
7. Fernandez-Canon, J. M., Granadino, B. & Beltran-Valero de Bernabe, D. (1996) The molecular basis of alkaptonuria. Nat Genet 14, 19-24.
8. Gaines, J.J. Jr. (1989) The pathology of alkaptonuric ochronosis. Hum Pathol 20, 40-46.
9. Garrod, E. (1902) The incidence of alkaptonuria: A study in chemical individuality. Lancet 12, 1616-1620.
10. Gazali, L. I., Bener, A., Abdulrazzaq, Y. M., et al. (1997) Consanguineous marriages in the United Arab Emirates. J Biosocial Science 29, 491-497.
11. Goicoechea De Jorge, E., Lorda, I., Gallardo, M. E., et al. (2002) Alkaptonuria in the Dominican Republic: Identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene. J Med Genet 39, E40.
12. Granadino, B., Beltran-Valero de Bernabe, D., Fernandez-Canon, J. M., et al. (1997) The human homogentisate 1,2-dioxygenase (HGO) gene. Genomics 43, 115-122.
13. Hamdi, N., Cooke, T. D., Hassan, B. (1999) Ochronotic arthropathy: Case report and review of the literature. Int Orthop 23, 122-125.
14. Janocha, S., Wolz, W. & Srsen, S. (1994) The human gene for alkaptonuria (AKU) maps to chromosome 3q. Genomics 19, 5-8.
15. Kottinen, Y. T., Hoikka, V., Landtman, M., et al. (1989) Ochronosis: A report of a case and a review of literature. Clin Exp Rheumatol 7, 435-444.
16. LaDu, B. N. (2001) Alkaptonuria. In: The Metabolic and Molecular Bases of Inherited Disease, (eds. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, & B. Vogelstein), pp. 2109-2123, 8th ed, vol. 2. New York: McGraw-Hill.
17. La Du, B. N., Seegmiller, J. E., Laster, L., et al. (1958) Alcaptonuria and ochronotic arthritis. Bull Rheum Dis 8, 163-164.
18. Lee, S. L. & Stenn, F. F. (1978) Characterization of mummy bone ochronotic pigment. JAMA 240, 136-138.
19. O'Brien, W. M., La Du, B. N. & Bunim, J. J. (1963) Biochemical, pathologic and clinical aspects of alkaptonuria, ochronosis and ochronotic arthropathy: Review of the world literature (1584 ± 1962). Am J Med 34, 813-38.
20. Phornphutkul, C., Introne, W. J., Perry, M. B., et al. (2002) Natural history of alkaptonuria. N Engl J Med 347, 2111-2121.
21. Pollak, M. R., Chou, Y.-H. W. & Cerda, J. J. (1993) Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2. Nat Genet 5, 201-204.
22. Rodriguez, J. M., Timm, D. E., Titus, G. P., et al. (2000) Structural and functional analysis of mutations in alkaptonuria. Hum Mol Genet 9, 2341-2350.
23. Stenn, F. F., Milgram, J. W., Lee, S. L., et al. (1977) Biochemical identification of homogentisic acid pigment in an ochronotic Egyptian mummy. Science 197, 566-568.
24. Uyguner, O., Goicoechea deJorge, E., Cefle, A., et al. (2003) Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations. J Inherit Metab Dis 26, 17-23.
25. Virchow, R. (1866) Ein Fall von allgemeiner ochronose der Knorpel und Knorpelahnlicher Theile. Virchows Arch Pathol Anat Physiol 37, 212-19.
26. Zatková, A., Chmelikova, A., Polakova, H., et al. (2003) Rapid detection methods for five HGO gene mutations causing alkaptonuria. Clin Genet 63, 145-149.
27. Zatková, A., de Bernabé, D. B., Poláková, H., et al. (2000) High frequency of alkaptonuria in Slovakia: Evidence for the appearance of multiple mutations in HGO involving different mutational hot spots. Am J Hum Genet 67, 1333-1339.