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Article

A founder mutation causing a severe methylenetetrahydrofolate reductase (MTHFR) deficiency in Bukharian Jews.

Molecular genetics and metabolism - 1 Nov 2012

Ben-Shachar Shay, Zvi Tal, Rolfs Arndt, Breda Klobus Andrea, Yaron Yuval, Bar-Shira Anat, Orr-Urtreger Avi

Abstract excerpt

Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disorder. A novel homozygous MTHFR c.474A>T (p.G158G) mutation was detected in two unrelated children of Jewish Bukharian origin. This mutation generates an abnormal splicing and early termination codon. A carrier frequency of 1:39 (5/196) was determined among unrelated healthy Bukharian Jews. Given the disease severity and...

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PMID: 22947400
DOI: 10.1016/j.ymgme.2012.08.011

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MTHFR

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Source receipt: pubmed, retrieved 7 Sept 2026.

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