Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population

Molecular Genetics and Metabolism

Volumn 88, Issue 1, 2006, Pages 93-95

  Sinigerska, Ivanka ^a   Chandler, David ^b   Vaghjiani, Vijesh ^b,c   Hassanova, Irfet ^a   Gooding, Rebecca ^b   Morrone, Amelia ^d   Kremensky, Ivo ^a   Kalaydjieva, Luba ^b  

^a MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c EDITH COWAN UNIVERSITY   (Australia)

^d UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Galactosidase (GLB1) gene; Founder mutations; Genetic diagnosis; Gypsy population; Infantile GM1 gangliosidosis

Indexed keywords

ARTICLE; ASIAN; CLINICAL ARTICLE; CONTROLLED STUDY; FETUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GIPSY; GM1 GANGLIOSIDOSIS; HAPLOTYPE; HETEROZYGOTE; HUMAN; INFANT; INFANT DISEASE; LYSOSOME STORAGE DISEASE; MUTATIONAL ANALYSIS; POPULATION GENETICS; PRIORITY JOURNAL; SOUTH AMERICA;

BETA-GALACTOSIDASE; FOUNDER EFFECT; GANGLIOSIDOSIS, GM1; GYPSIES; HUMANS; INFANT; POINT MUTATION;

EID: 33646050917     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.12.009     Document Type: Article

References (18)

1. Kalaydjieva L., Morar B., Chaix R., and Tang H. A newly discovered founder population: the Roma/Gypsies. BioEssays 27 (2005) 1084-1094
2. Kalaydjieva L., Gresham D., and Calafell F F. Genetic studies of the Roma (Gypsies): a review. BMC Med. Genet. 2 (2001) 5
3. Hunter M., Heyer E., Austerlitz F., Angelicheva D., Nedkova V., Briones P., Gata A., de Pablo R., Laszlo A., Bosshard N., Gitzelman R., Tordai A., Kalmar L., Szalai C., Balogh I., Lupu C., Corches A., Popa G., Perez-Lezaun A., and Kalaydjieva L. The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe. Pediatr. Res. 51 (2002) 602-606
4. Suzuki Y., Oshima A., and Nanba E. β-galactosidase deficiency (β-galactosidosis) GM1-gangliosidosis and Morquio B disease. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Basis of Inherited Disease (2001), McGraw-Hill, New York 3775-3809
5. O'Brien J.S. β-Galactosidase deficiency (GM1-gangliosidosis, galactosialidosis and Morquio syndrome type B); Ganglioside sialidase deficiency (mucolipidosis IV). In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic Basis of Inherited Disease (1989), McGraw-Hill, New York 1797-1806
6. Lenicker H.M., Vassallo Agius P., Young E.P., and Attard Montalto S.P. Infantile generalized GM1-gangliosidosis: high incidence in the Maltese Islands. J. Inherit. Metab. Dis. 20 (1997) 723-724
7. Severini M.H.A., Silva C.D., Sopelsa A., Coehlo J.C., and Giugliani R. High frequency of type 1 GM1-gangliosidosis in southern Brazil. Clin. Genet. 56 (1999) 168-169
8. Morrone A., Bardelli T., Donati M.A., Giorgi M., Di Rocco M., Gatti R., Parini R., Ricci R., Tadeucci G., D'Azzo A., and Zammarchi E. β-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. Hum. Mutat. 15 (2000) 354-366
9. Caciotti A., Donati M.A., Boneh A., d'Azzo A., Federico A., Parini R., Antuzzi D., Bardelli T., Nosi D., Kimonis V., Zammarchi E., and Morrone A. Role of β-galactosidase and elastin binding protein in lysosomal and non-lysosomal complexes of patients with GM1-gangliosidosis. Hum. Mutat. 25 (2005) 285-292
10. De Jong J.G.N., Wevers R.A., Laarakkers C., and Poortthuis B.J.H.M. Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses. Clin. Chem. 35 (1989) 1472-1477
11. Humbel R., and Collart M. Oligosaccharides in urine of patients with glycoprotein storage diseases. I. Rapid detection by thin layer chromatography. Clin. Chim. Acta 60 (1975) 143-144
12. Ho M.W., and O'Brien J.S. Stimulation of acid beta-galactosidase activity by chloride ions. Clin. Chim. Acta 30 (1970) 531-534
13. Yamamoto Y., Hake C.A., Martin B.M., Kretz K.A., Ahernrindell A.J., Naylor S.L., Mudd M., and O'Brien J.S. Isolation, characterization and mapping of human acid beta-galactosidase cDNA. DNA Cell Biol. 9 (1990) 19-27
14. Morreau H., Bonten E., Zhou X.Y., and d'Azzo A. Organization of the gene encoding human lysosomal β-galactosidase. DNA Cell Biol. 10 (1991) 495-504
15. Silva C.M.D., Severini M.H., Sopelsa A., Coehlo J.C., Zaha A., d'Azzo A., and Giugliani R. Six novel β-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis. Hum. Mutat. 13 (1999) 401-409
16. Gresham D., Morar B., Underhill P., Passarino G., Lin A.A., Wise C., Angelicheva D., Calafell F., Oefner P.J., Shen P., Tournev I., de Pablo R., Kuchinskas V., Perez-Lezaun A., Marushiakova E., Popov V., and Kalaydjieva L. Origins and divergence of the Roma (Gypsies). Am. J. Hum. Genet. 69 (2001) 1314-1331
17. Morar B., Gresham D., Angelicheva D., Tournev I., Gooding R., Guergueltcheva V., Schmidt C., Abicht A., Lochmüller H., Tordai A., Kalmar L., Nagy M., Karcagi V., Jeanpierre M., Herczegfalvi A., de Pablo R., Kucinskas V., and Kalaydjieva L. Mutation history of the Roma/Gypsies. Am. J. Hum. Genet. 75 (2004) 596-609
18. V.-B. da Mota, The gypsies of Brazil, The Patrin Web Journal, .