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

Abstract：

: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 allele frequency, a population screening for individuals of this ancestry is warranted in order to allow prenatal, or preimplantation diagnosis.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Ben-Shachar S,Zvi T,Rolfs A,Breda Klobus A,Yaron Y,Bar-Shira A,Orr-Urtreger A

doi

10.1016/j.ymgme.2012.08.011

subject

Has Abstract

pub_date

2012-11-01 00:00:00

pages

608-10

issue

3

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(12)00311-3

journal_volume

107

pub_type

杂志文章

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