Identificador persistente para citar o vincular este elemento: http://hdl.handle.net/10553/49387
Título: The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America
Autores/as: Urreizti, Roser
Asteggiano, Carla
Bermudez, Marta
Córdoba, Alfonso
Szlago, Mariana
Grosso, Carola
De Kremer, Raquel Dodelson
Vilarinho, Laura
D'Almeida, Vania
Martínez-Pardo, Mercedes
Peña-Quintana, Luís 
Dalmau, Jaime
Bernal, Jaime
Briceño, Ignacio
Couce, María Luz
Rodés, Marga
Vilaseca, Maria Antonia
Balcells, Susana
Grinberg, Daniel
Clasificación UNESCO: 32 Ciencias médicas
320102 Genética clínica
Palabras clave: Haplotypes
Linkage Disequilibrium
Homocystinuria
Cystathionine beta-Synthase
Fecha de publicación: 2006
Publicación seriada: Journal of Human Genetics 
Resumen: Classical homocystinuria is due to cystathionine beta-synthase (CBS) deficiency. More than 130 mutations, which differ in prevalence and severity, have been described at the CBS gene. Mutation p.I278T is very prevalent, has been found in all European countries where it has been looked for with the exception of the Iberian peninsula, and is known to respond to vitamin B6. On the other hand, mutation p.T191M is prevalent in Spain and Portugal and does not respond to B6. We analysed 30 pedigrees from Spain, Portugal, Colombia and Argentina, segregating for homocystinuria. The p.T191M mutation was detected in patients from all four countries and was particularly prevalent in Colombia. The number of p.T191M alleles described in this study, together with those previously published, is 71. The prevalence of p.T191M among CBS mutant alleles in the different countries was: 0.75 in Colombia, 0.52 in Spain, 0.33 in Portugal, 0.25 in Venezuela, 0.20 in Argentina and 0.14 in Brazil. Haplotype analyses suggested a double origin for this mutation. No genotype-phenotype correlation other than the B6-nonresponsiveness could be established for the p.T191M mutation. Additionally, three new mutations, p.M173V, p.I429del and c.69_70+8del10, were found. The p.M173V was associated with a mild, B6-responsive, phenotype.
URI: http://hdl.handle.net/10553/49387
ISSN: 1434-5161
DOI: 10.1007/s10038-006-0362-0
Fuente: Journal of Human Genetics[ISSN 1434-5161],v. 51(4), p. 305-313 (Febrero 2006)
Colección:Artículos
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