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

被引：4

作者：

Ben-Shachar, Shay ^{[1
,2
]}

Zvi, Tal ^{[1
,2
]}

Rolfs, Arndt ^{[3
,4
]}

Klobus, Andrea Breda ^{[4
]}

Yaron, Yuval ^{[1
,2
,5
]}

Bar-Shira, Anat ^{[1
,2
]}

Orr-Urtreger, Avi ^{[1
,2
,5
]}

机构：

[1] Tel Aviv Sourasky Med Ctr, Genet Inst, IL-64239 Tel Aviv, Israel

[2] Tel Aviv Sourasky Med Ctr, Prenatal Diag Unit, IL-64239 Tel Aviv, Israel

[3] Univ Rostock, Fac Med, Albrecht Kossel Inst Neuroregenerat, D-2500 Rostock 1, Germany

[4] Centogene GmbH, Rare Dis Co, Rostock, Germany

[5] Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel

来源：

MOLECULAR GENETICS AND METABOLISM | 2012年 / 107卷 / 03期

关键词：

MTHFR; Founder mutation; Bukhara;

D O I：

10.1016/j.ymgme.2012.08.011

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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. (C) 2012 Elsevier Inc. All rights reserved.

引用

页码：608 / 610

页数：3

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