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

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

doi:10.1016/j.ymgme.2012.08.011

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

Mol Genet Metab. 2012 Nov;107(3):608-10. doi: 10.1016/j.ymgme.2012.08.011. Epub 2012 Aug 18.

Authors

Shay Ben-Shachar¹, Tal Zvi, Arndt Rolfs, Andrea Breda Klobus, Yuval Yaron, Anat Bar-Shira, Avi Orr-Urtreger

Affiliation

¹ The Genetic Institute & Prenatal Diagnosis Unit, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

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

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.

Publication types

Case Reports

MeSH terms

Alleles
Exons
Female
Founder Effect*
Gene Frequency
Heterozygote
Homocystinuria / ethnology*
Homocystinuria / genetics*
Humans
Infant
Jews*
Male
Methylenetetrahydrofolate Reductase (NADPH2) / deficiency
Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
Muscle Spasticity / ethnology*
Muscle Spasticity / genetics*
Mutation*
Psychotic Disorders / ethnology
Psychotic Disorders / genetics
Severity of Illness Index
Uzbekistan / epidemiology

Substances

MTHFR protein, human
Methylenetetrahydrofolate Reductase (NADPH2)

Supplementary concepts

Methylenetetrahydrofolate reductase deficiency