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Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria

✍ Scribed by Sahar Sibani; Benedicte Christensen; Erin O'Ferrall; Irfan Saadi; François Hiou-Tim; David S. Rosenblatt; Rima Rozen

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
257 KB
Volume
15
Category
Article
ISSN
1059-7794

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✦ Synopsis

Communicated by Mark Paalman

Severe deficiency of methylenetetrahydrofolate reductase (MTHFR) is the most common inborn error of folate metabolism. Patients are characterized by severe hyperhomocysteinemia, homocystinuria and a variety of neurological and vascular problems. Eighteen rare mutations have been reported in this group of patients. Two polymorphisms which cause mild enzyme deficiencies have been described (677C®T and 1298A®C). The first sequence change encodes a thermolabile enzyme and is associated with mild hyperhomocysteinemia. Six novel point mutations are described in patients with severe deficiency of MTHFR, along with their associated polymorphisms and clinical phenotypes. Of the two nonsense mutations (1762A®T, 1134C®G) and four missense mutations (1727C®T, 1172G®A, 1768G®A, and 358G®A), one was identified in the N-terminal catalytic domain, while the others were located in the regulatory Cterminal region. All four residues affected by missense mutations are conserved in one or more MTHFRs of other species. This report brings the total to 24 mutations identified in severe MTHFR deficiency, with two mutations identified in each of 22 patients.

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