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Cystathionine β-synthase mutations in homocystinuria

✍ Scribed by Jan P. Kraus; Miroslav Janošík; Viktor Kožich; Roseann Mandell; Vivian Shih; M.P. Sperandeo; Gianfranco Sebastio; Raffaella de Franchis; Generoso Andria; Leo A.J. Kluijtmans; Henk Blom; Godfried H.J. Boers; Ross B. Gordon; Pierre Kamoun; Michael Y. Tsai; Warren D. Kruger; Hans G. Koch; Toshihiro Ohura; Mette Gaustadnes

Book ID
101261227
Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
348 KB
Volume
13
Category
Article
ISSN
1059-7794

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✦ Synopsis

The major cause of homocystinuria is mutation of the gene encoding the enzyme cystathionine bsynthase (CBS). Deficiency of CBS activity results in elevated levels of homocysteine as well as methionine in plasma and urine and decreased levels of cystathionine and cysteine. Ninety-two different disease-associated mutations have been identified in the CBS gene in 310 examined homocystinuric alleles in more than a dozen laboratories around the world. Most of these mutations are missense, and the vast majority of these are private mutations. The two most frequently encountered of these mutations are the pyridoxine-responsive I278T and the pyridoxine-nonresponsive G307S. Mutations due to deaminations of methylcytosines represent 53% of all point substitutions in the coding region of the CBS gene. Hum Mutat 13:362-375, 1999.

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Mutational analysis of the cystathionine β-synthase gene: A splicing mutation, two missense mutations and an insertion in patients with homocystinuria
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## Communicated by Davd Valk Deficiency of cystathionine P-synthase (CBS) causes the most common form of inherited homocystinuria. We developed a simple CBS expression system in E. coli to screen for pathogenic mutations in affected individuals. Portions of patient cDNAs were amplified by PCR and