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

  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},
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… 
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 due
Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: Report on three novel mutations E176K, W409X and 1223 + 37 de199
The CBS gene is analysed in 12 Czech and Slovak homocystinuric patients and the first results are reported, including three novel mutations.
Characterization of cystathionine beta-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6.
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.
High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia
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.
The Spectrum of Mutations of Homocystinuria in the MENA Region
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.
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America
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.
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 the
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 in
A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax
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.


Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.
The G307S mutation was detected in 50% (9 of 18) of the Celtic alleles in the authors' series, which suggests that Celtic (Irish/English/Scottish/French) ancestry in either one or both parents is probably associated with pyridoxine responsiveness.
Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells.
The human CBS cDNA sequence of 2,554 nucleotides encoding the CBS subunit of 551 amino acids is reported and it is demonstrated that expression of the human enzyme in CHO cells yields enzymatically active protein of the expected size with a half-life of approximately 14 hrs.
Screening for mutations by expressing patient cDNA segments in E. coli: Homocystinuria due to cystathionine β‐synthase deficiency
This bacterial expression system proved to be a rapid screening method for localizing pathogenic mutations in CBS, allowing us to sequence the affected portions of mutant cDNA within 7–10 days of harvesting cultured fibroblasts.
Molecular Cloning: A Laboratory Manual
The content has been entirely recast to include nucleic-acid based methods selected as the most widely used and valuable in molecular and cellular biology laboratories.
DNA sequencing with chain-terminating inhibitors.
A new method for determining nucleotide sequences in DNA is described, which makes use of the 2',3'-dideoxy and arabinon nucleoside analogues of the normal deoxynucleoside triphosphates, which act as specific chain-terminating inhibitors of DNA polymerase.
Human cystathionine /~-synthase cDNA
  • 1993
Molecular defect in a patient with pyridoxine-responsive homocystinuria.