title: 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.
authors.affiliation: The Genetic Institute & Prenatal Diagnosis Unit, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors.forename: Shay
authors.initials: S
authors.lastname: Ben-Shachar
authors.forename: Tal
authors.initials: T
authors.lastname: Zvi
authors.forename: Arndt
authors.initials: A
authors.lastname: Rolfs
authors.forename: Andrea
authors.initials: A
authors.lastname: Breda Klobus
authors.forename: Yuval
authors.initials: Y
authors.lastname: Yaron
authors.forename: Anat
authors.initials: A
authors.lastname: Bar-Shira
authors.forename: Avi
authors.initials: A
authors.lastname: Orr-Urtreger
mesh_terms: D000483:Alleles; D005091:Exons; D005260:Female; D018703:Founder Effect; D005787:Gene Frequency; D006579:Heterozygote; D006712:Homocystinuria / Q000208:ethnology* / Q000235:genetics*; D006801:Humans; D007223:Infant; D007585:Jews; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000172:deficiency / Q000235:genetics*; D009128:Muscle Spasticity / Q000208:ethnology* / Q000235:genetics*; D009154:Mutation; D011618:Psychotic Disorders / Q000208:ethnology / Q000235:genetics; D012720:Severity of Illness Index; D014610:Uzbekistan / Q000453:epidemiology
chemical_list: C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)