High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia

@article{Bermdez2006HighPO,
  title={High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia},
  author={Marta Berm{\'u}dez and Nina Frank and Jaime E. Bernal and Roser Urreizti and Ignacio Brice{\~n}o and Bego{\~n}a Merinero and Celia P{\'e}rez-Cerd{\'a} and Magdalena Ugarte and Daniel Grinberg and Susana Balcells and Jan P Kraus},
  journal={Human Mutation},
  year={2006},
  volume={27}
}
Homocystinuria is an autosomal recessive disease most commonly caused by mutations in cystathionine β‐synthase (CBS). In this study we present the mutation analysis of 36 Colombian individuals from 10 unrelated kindred, with 11 individuals clinically classified as homocystinuric. Mutation analysis of the CBS gene revealed p.T191M, a prevalent mutation in Spain and Portugal, in the homozygous state in seven of the unrelated patients. Genotype‐phenotype assessment of the p.T191M homozygous… 
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America
TLDR
No genotype-phenotype correlation other than the B6-nonresponsiveness could be established for the p.T191M mutation, which was detected in patients from all four countries and was particularly prevalent in Colombia.
High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.
TLDR
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Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family.
TLDR
It is concluded that there are likely other undiagnosed, highly B6-responsive adult patients with CBS deficiency, and that additional testing of cystathionine, total cysteine, methionsine, and S-adenosylmethionine will be helpful in diagnosing them correctly and distinguishing CBS deficiency from remethylation defects.
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TLDR
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TLDR
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TLDR
The term M ECOM-associated syndrome is proposed for this heterogeneous hereditary disease and inclusion of MECOM sequencing in the diagnostic workup of congenital bone marrow failure is proposed.
HOMOCYSTEINE CLEARANCE IN HEMODIALYSIS
TLDR
Patients undergoing hemodialysis were found to have higher levels of urea and its clearance was greater with the higher the ratio of ultra filtration dialyser, and mutation of the gene in mutilen-tetrahydrofolate reductase enzyme was similar to the general population and had no impact on plasma levels of homocysteine.
CBS mutations are good predictors for B6‐responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients
TLDR
The objective of this study was to identify the CBS mutations in Brazilian patients with HCU with the aim of identifying theCBS mutations in patients with classical homocystinuria.
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