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

@article{Urreizti2006ThePM,
  title={The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America},
  author={Roser Urreizti and Carla Gabriela Asteggiano and Marta Berm{\'u}dez and Alfonso C{\'o}rdoba and Marina Szlago and Carola L Grosso and Raquel Dodelson de Kremer and Laura Vilarinho and V{\^a}nia D’Almeida and Mercedes Mart{\'i}nez-Pardo and Luis Pe{\~n}a-Quintana and Jaime Dalmau and Jaime E. Bernal and Ignacio Brice{\~n}o and Mar{\'i}a Luz Couce and Margarita Rod{\'e}s and Mar{\'i}a Ant{\`o}nia Vilaseca and Susana Balcells and Daniel Grinberg},
  journal={Journal of Human Genetics},
  year={2006},
  volume={51},
  pages={305-313}
}
AbstractClassical 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… 
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TLDR
The first characterization, at a molecular level, of patients with homocystinuria from Colombia is presented, with one atypical finding was that many of them presented with above average total homocysteine levels, putting them at an increased risk for vascular disease.
Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: High prevalence of T191M and absence of I278T or G307S
TLDR
A mutation analysis of thirteen Spanish and three Portuguese unrelated homocystinuric patients found ten mutations to account for the thirty‐two mutant alleles and five of these (C275Y, L338P, S349N, R379Q, and L456P) are reported here for the first time.
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TLDR
The molecular basis of CBS deficiency was determined in 36 Australian patients from 28 unrelated families, using direct sequencing of the entire coding region of the CBS gene and the correlation between genotype and the biochemical response to pyridoxine treatment was studied.
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TLDR
Using SSCP to survey reverse transcribed-PCR amplified cystathionine synthase cDNAs from patients with homocystinuria, one synonymous and two missense mutations in a portion of the cDNA encoded by a single 135 bp exon suggest they may have arisen by a gene conversion event or by nonhomologous recombination.
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TLDR
The finding that the two patients who are homozygous for I278T have only ectopia lentis and mild bone demineralization suggests that this mutation is associated with both in vivo pyridoxine responsiveness and mild clinical disease.
Molecular analysis of patients affected by homocystinuria due to cystathionine β-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11
TLDR
Two independent patients are reported showing a novel mutation in exon 8 and a 49bp deletion located in intron 11, respectively, and the occurrence of four relatively common mutations in 16 homocystinuric families of South European origin are tested.
Four novel mutations in the cystathionine β‐synthase gene: Effect of a second linked mutation on the severity of the homocystinuric phenotype
TLDR
Four novel missense mutations in the CBS gene are reported, raising the possibility that double mutant alleles may be underestimated in homocystinuric patients and a search for additional mutations in cis may sometimes be necessary to establish a good genotype‐phenotype relationship.
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