Artículo
Montfort, M.; Vilageliu, L.; Garcia-Giralt, N.; Guidi, S.; Coll, M.J.; Chabás, A.; Grinberg, D. "Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients" (1998) Human Mutation. 12(4):274-279
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Abstract:
The gene resposible for Sanfilippo syndrome type A, a lysosomal disorder caused by deficiency of sulfamidase, was recently cloned and more than 40 mutations were identified. This paper presents the mutation analysis and clinical findings in 11 Spanish patients in whom 19 of the 22 mutant alleles have been identified. This is the first report on mutations in Spanish Sanfilippo A patients. Seven different mutations were found, four of which (Q85R, R206P, A354P, and L386R) were not previously described. Mutation 1091del C was the most prevalent, accounting for nearly one-half of the mutated alleles, while mutations R245H and R74C were not found. Haplotype analysis suggests a founder effect as the cause of the high frequency of 1091del C in this population.
Registro:
| Documento: | Artículo |
| Título: | Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients |
| Autor: | Montfort, M.; Vilageliu, L.; Garcia-Giralt, N.; Guidi, S.; Coll, M.J.; Chabás, A.; Grinberg, D. |
| Filiación: | Departament de Genètica, Universitat de Barcelona, 08071 Barcelona, Spain Inst. de Bioquim. Clínica, Mejia Lequerica s/n, 08028 Barcelona, Spain Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Av Diagonal 645, E-08071 Barcelona, Spain Depto. de Quim. Biológica, Universidad de Buenos Aires, C. Universitaria, 1428 Buenos Aires, Argentina |
| Palabras clave: | Clinical findings; Mucopolysaccharidosis IIIA; Mutation 1091delC; Mutation detection; Mutation frequencies; Sanfilippo A; SSCP; Sulfamidase; amidase; allele; article; catabolism; enzyme deficiency; gene frequency; gene location; gene mutation; human; human cell; lysosome storage disease; prevalence; priority journal; sanfilippo syndrome; single strand conformation polymorphism; spain; Adolescent; Child; Child, Preschool; DNA Mutational Analysis; Founder Effect; Genes; Haplotypes; Humans; Hydrolases; Mucopolysaccharidosis III; Mutation; Polymorphism, Single-Stranded Conformational; Sequence Deletion; Spain |
| Año: | 1998 |
| Volumen: | 12 |
| Número: | 4 |
| Página de inicio: | 274 |
| Página de fin: | 279 |
| DOI: | http://dx.doi.org/10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F |
| Título revista: | Human Mutation |
| Título revista abreviado: | Hum. Mutat. |
| ISSN: | 10597794 |
| CODEN: | HUMUE |
| CAS: | Hydrolases, EC 3.-; sulphoglucosamine sulphamidase, EC 3.10.1.1 |
| Registro: | https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10597794_v12_n4_p274_Montfort |
Referencias:
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Citas:
---------- APA ----------
Montfort, M., Vilageliu, L., Garcia-Giralt, N., Guidi, S., Coll, M.J., Chabás, A. & Grinberg, D. (1998) . Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients. Human Mutation, 12(4), 274-279.http://dx.doi.org/10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F
---------- CHICAGO ----------
Montfort, M., Vilageliu, L., Garcia-Giralt, N., Guidi, S., Coll, M.J., Chabás, A., et al. "Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients" . Human Mutation 12, no. 4 (1998) : 274-279.http://dx.doi.org/10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F
---------- MLA ----------
Montfort, M., Vilageliu, L., Garcia-Giralt, N., Guidi, S., Coll, M.J., Chabás, A., et al. "Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients" . Human Mutation, vol. 12, no. 4, 1998, pp. 274-279.http://dx.doi.org/10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F
---------- VANCOUVER ----------
Montfort, M., Vilageliu, L., Garcia-Giralt, N., Guidi, S., Coll, M.J., Chabás, A., et al. Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients. Hum. Mutat. 1998;12(4):274-279.http://dx.doi.org/10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F
