Original Article | Published:

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

Journal of Human Genetics volume 51, pages 305313 (2006) | Download Citation

  • An Erratum to this article was published on 23 February 2007

Abstract

Classical homocystinuria is due to cystathionine β-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.

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Affiliations

  1. Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Av. Diagonal, 645, 08028 Barcelona, Spain

    • Roser Urreizti
    • , Carla Asteggiano
    • , Susana Balcells
    •  & Daniel Grinberg
  2. Centro de Estudio de las Metabolopatías Congénitas, Universidad Nacional de Córdoba, Hospital de Niños, Córdoba, Argentina

    • Carla Asteggiano
    • , Carola Grosso
    •  & Raquel Dodelson de Kremer
  3. Instituto de Genética Humana, Pontificia Universidad Javeriana, Bogotá, Colombia

    • Marta Bermudez
    • , Jaime Bernal
    •  & Ignacio Briceño
  4. Depto de Fisiología y Bioquímica, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia

    • Alfonso Córdoba
  5. Fundación para el Estudio de las Enfermedades Neurometabólicas, Buenos Aires, Argentina

    • Mariana Szlago
  6. Instituto de Genética Médica Jacinto Magalhaes, Porto, Portugal

    • Laura Vilarinho
  7. Department of Pediatrics, Universidade Fereral de Sao Paulo-UNIFESP/EPM, Sao Paulo, Brazil

    • Vania D'Almeida
  8. Unidad de Enfermedades Metabólicas, Servicio de Pediatría, Hospital Ramón y Cajal, Madrid, Spain

    • Mercedes Martínez-Pardo
  9. Unidad de Gastroenterología y Nutrición, Hospital Universitario Materno Infantil, Las Palmas de GC, Spain

    • Luís Peña-Quintana
  10. Unidad de Nutrición y Metabolopatías, Hospital Infantil La Fe, Valencia, Spain

    • Jaime Dalmau
  11. Departamento de Pediatría, Hospital Clínico Universitario de Santiago, Santiago de Compostela, Spain

    • María Luz Couce
  12. Institut de Bioquímica Clínica, Corporació Sanitària-Clínic, Barcelona, Spain

    • Marga Rodés
  13. Servei de Bioquímica, Hospital Sant Joan de Déu, Barcelona, Spain

    • Maria Antonia Vilaseca

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Corresponding author

Correspondence to Daniel Grinberg.

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DOI

https://doi.org/10.1007/s10038-006-0362-0

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