The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America

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dc.contributor.authorUrreizti, Roser
dc.contributor.authorAsteggiano, Carla
dc.contributor.authorBermudez, Marta
dc.contributor.authorCordoba, Alfonso
dc.contributor.authorSzlago, Marina
dc.contributor.authorGrosso, Carola
dc.contributor.authorKremer, Raquel Dodelson de
dc.contributor.authorD'Almeida, Vânia [UNIFESP]
dc.contributor.authorMartinez-Pardo, Mercedes
dc.contributor.authorPena-Quintana, Luis
dc.contributor.authorDalmau, Jaime
dc.contributor.authorRodes, Marta
dc.contributor.authorVilaseca, Maria Antonia
dc.contributor.authorBalcells, Susana
dc.contributor.authorGrinberg, Daniel
dc.contributor.institutionUniv Barcelona
dc.contributor.institutionUniv Nacl Cordoba
dc.contributor.institutionPontificia Univ Javeriana
dc.contributor.institutionUniv Antioquia
dc.contributor.institutionFundac Estud Enfermedades Neurometab
dc.contributor.institutionInst Genet Med Jacinto Magalhaes
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionHosp Ramon y Cajal
dc.contributor.institutionHosp Univ Materno Infantil
dc.contributor.institutionHosp Infantil Le Fe
dc.contributor.institutionHosp Clin Univ Santiago
dc.contributor.institutionCorp Sanitaria Clin
dc.contributor.institutionHosp St Joan Deu
dc.date.accessioned2016-01-24T12:38:13Z
dc.date.available2016-01-24T12:38:13Z
dc.date.issued2006-01-01
dc.description.abstractClassical 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 B-6. On the other hand, mutation p.T191M is prevalent in Spain and Portugal and does not respond to B-6. 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 B-6-nonresponsiveness Could be established for the p.T191M mutation. Additionally,. three new mutations, p.M173V, p.I429del and c.69_70+8de110, were found. the p.M173V was associated with a mild, B-6-responsive, phenotype.en
dc.description.affiliationUniv Barcelona, Fac Biol, Dept Genet, E-08028 Barcelona, Spain
dc.description.affiliationUniv Nacl Cordoba, Ctr Estud Metab Congenitas, Hosp Ninos, Cordoba, Argentina
dc.description.affiliationPontificia Univ Javeriana, Inst Genet Humana, Bogota, Colombia
dc.description.affiliationUniv Antioquia, Fac Med, Depto Fisiol & Bioquim, Medellin, Colombia
dc.description.affiliationFundac Estud Enfermedades Neurometab, Buenos Aires, DF, Argentina
dc.description.affiliationInst Genet Med Jacinto Magalhaes, Oporto, Portugal
dc.description.affiliationUniversidade Federal de São Paulo, UNIFESP, EPM, Dept Pediat, São Paulo, Brazil
dc.description.affiliationHosp Ramon y Cajal, Serv Pediat, Unidad Enfermedades Metab, Madrid, Spain
dc.description.affiliationHosp Univ Materno Infantil, Unidad Gastroenterol & Nutr, Las Palmas Gran Canaria, Spain
dc.description.affiliationHosp Infantil Le Fe, Unidad Nutr & Metab, Valencia, Spain
dc.description.affiliationHosp Clin Univ Santiago, Dept Pediat, Santiago de Compostela, Spain
dc.description.affiliationCorp Sanitaria Clin, Inst Bioquim Clin, Barcelona, Spain
dc.description.affiliationHosp St Joan Deu, Serv Bioquim, Barcelona, Spain
dc.description.affiliationUnifespUniversidade Federal de São Paulo, UNIFESP, EPM, Dept Pediat, São Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent305-313
dc.identifierhttp://dx.doi.org/10.1007/s10038-006-0362-0
dc.identifier.citationJournal of Human Genetics. Tokyo: Springer Tokyo, v. 51, n. 4, p. 305-313, 2006.
dc.identifier.doi10.1007/s10038-006-0362-0
dc.identifier.issn1434-5161
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/28598
dc.identifier.wosWOS:000236908800006
dc.language.isoeng
dc.publisherSpringer
dc.relation.ispartofJournal of Human Genetics
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rights.licensehttp://www.springer.com/open+access/authors+rights?SGWID=0-176704-12-683201-0
dc.subjecthomocystinuriaen
dc.subjectCBSen
dc.subjectT191M mutationen
dc.subjectlatin-Americaen
dc.subjectSpain Portugalen
dc.titleThe p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South Americaen
dc.typeinfo:eu-repo/semantics/article
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