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

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

Author Urreizti, Roser Google Scholar
Asteggiano, Carla Google Scholar
Bermudez, Marta Google Scholar
Cordoba, Alfonso Google Scholar
Szlago, Marina Google Scholar
Grosso, Carola Google Scholar
Kremer, Raquel Dodelson de Google Scholar
D'Almeida, Vânia Autor UNIFESP Google Scholar
Martinez-Pardo, Mercedes Google Scholar
Pena-Quintana, Luis Google Scholar
Dalmau, Jaime Google Scholar
Rodes, Marta Google Scholar
Vilaseca, Maria Antonia Google Scholar
Balcells, Susana Google Scholar
Grinberg, Daniel Google Scholar
Institution Univ Barcelona
Univ Nacl Cordoba
Pontificia Univ Javeriana
Univ Antioquia
Fundac Estud Enfermedades Neurometab
Inst Genet Med Jacinto Magalhaes
Universidade Federal de São Paulo (UNIFESP)
Hosp Ramon y Cajal
Hosp Univ Materno Infantil
Hosp Infantil Le Fe
Hosp Clin Univ Santiago
Corp Sanitaria Clin
Hosp St Joan Deu
Abstract 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 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.
Keywords homocystinuria
T191M mutation
Spain Portugal
Language English
Date 2006-01-01
Published in Journal of Human Genetics. Tokyo: Springer Tokyo, v. 51, n. 4, p. 305-313, 2006.
ISSN 1434-5161 (Sherpa/Romeo, impact factor)
Publisher Springer
Extent 305-313
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000236908800006

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