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

@article{Sperandeo2004MolecularAO,
  title={Molecular analysis of patients affected by homocystinuria due to cystathionine $\beta$-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11},
  author={M. P. Sperandeo and Maria Panico and Antonio Pepe and Mirande Candito and Raffaella de Franchis and Jan P Kraus and Generoso Andria and Gianfranco Sebastio},
  journal={Journal of Inherited Metabolic Disease},
  year={2004},
  volume={18},
  pages={211-214}
}
Homocystinuria due to cystathionine ]~-synthase (CBS) deficiency is an inborn metabolic disorder of sulphur amino acids, inherited as an autosomal recessive trait (McKusick 236200). Main biochemical and clinical findings are homocystinuria with hypermethioninaemia, mental retardation, dislocated optic lenses, skeletal anomalies and premature thromboembolic disease. Two forms of the disease can be distinguished on the basis of patients' responsiveness to treatment with pyridoxine, the precursor… Expand
Four novel mutations at the cystathionine β-synthase locus causing homocystinuria
We describe four new mutations in the cystathionine β-synthase gene: three point mutations localized in exons 3, 9 and 10 and one mutation in exon 12 which results in stop codon. Homocystinuria dueExpand
Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: Report on three novel mutations E176K, W409X and 1223 + 37 de199
TLDR
The CBS gene is analysed in 12 Czech and Slovak homocystinuric patients and the first results are reported, including three novel mutations. Expand
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
The molecular findings of 26 Turkish probands with homocystinuria are provided and the effect of these polymorphisms on clinical phenotype of CBS is not very clear since the distribution of thrombophilic polymorphisms does not differ among specific groups. Expand
Characterization of cystathionine beta-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6.
TLDR
The cystathionine beta-synthase (CBS) gene mutations in Venezuelan patients are described for the first time and all mutations and polymorphisms detected involved hypermutable CpG sites, except for the novel mutation Q243X. Expand
High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia
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. Expand
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TLDR
The mutations spectrum of the CBS gene, the disease management, as well as the current and potential treatment approaches are examined with a greater emphasis on studies reported in the Middle East and North Africa (MENA) region. Expand
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. Expand
Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionineβ-synthase mutations
SummaryFasting and post-methionine load plasma total homocysteine concentrations were investigated in the parents of two homocystinuric patients. Three genetic mutations in theExpand
Molecular Biology of Cystathionine β-Synthase: Interrelationships with Homocysteine, Pyridoxine, and Vascular Disease
Cystathionine β-synthase (CBS) catalyzes the condensation of homocysteine with serine to form cystathionine, an irreversible step in the biosynthesis of cysteine. This reaction plays a key role inExpand
A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax
TLDR
NGS based Haloplex target enrichment technology is proved to be a rapid and cost-effective screening strategy for the comprehensive molecular diagnosis of BHDS in PSP patients, as it can replace Sanger sequencing and MLPA by simultaneously detecting exonic and intronic SNVs, small indels, large intragenic deletions and determining deletion junctions in PSP-related genes. Expand
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TLDR
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