Suppr超能文献

2型戈谢病发生在德系犹太人中,但令人惊讶的是极为罕见。

Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare.

作者信息

Aviner Shraga, Garty Ben-Zion, Rachmel Avinoam, Baris Hagit N, Sidransky Ellen, Shuffer Avinoam, Attias Joseph, Yaniv Yisaac, Cohen Ian J

机构信息

Department of Pediatrics, Barzilai Medical Center, Ashkelon, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

出版信息

Blood Cells Mol Dis. 2009 Nov-Dec;43(3):294-7. doi: 10.1016/j.bcmd.2009.08.004. Epub 2009 Sep 5.

Abstract

Patients with Gaucher disease (GD) are divided into three types based on the presence and rate of progression of the neurologic manifestations. While type 1 GD has a strong predilection in the Jewish Ashkenazi population, both other types lack such a propensity. We report the occurrence of type 2 GD (GD2) in four pregnancies in two Jewish families in Israel (in one case the mother was not Ashkenazi but was from a Sfaradi Jewish family) and also review seven additional cases of GD2 in Ashkenazi Jewish families reported in the literature. Phenotypically, GD2 in Ashkenazi Jews does not differ significantly from this form in other ethnic groups. Genotypic analysis of probands from the two Israeli families demonstrates that each carried two heterozygous glucocerebrosidase mutations. We could find no explanation why GD2 is so rare in the Jewish Ashkenazi population but we could hypothesize that homozygosity for certain Ashkenazi alleles might be lethal, leading to a lower than expected frequency of GD2 and noted that no cases of homozygous L444P has ever been described in Ashkenazi Jews.

摘要

戈谢病(GD)患者根据神经学表现的有无及进展速度分为三型。1型GD在犹太阿什肯纳兹人群中具有强烈的易感性,而其他两型则缺乏这种倾向。我们报告了以色列两个犹太家庭的四次妊娠中出现2型GD(GD2)(其中一例母亲并非阿什肯纳兹人,而是来自西班牙裔犹太家庭),并回顾了文献中报道的阿什肯纳兹犹太家庭中的另外七例GD2病例。从表型上看,阿什肯纳兹犹太人中的GD2与其他种族群体的这种类型没有显著差异。对来自这两个以色列家庭的先证者进行基因分型分析表明,每个先证者都携带两个杂合的葡萄糖脑苷脂酶突变。我们无法解释为什么GD2在犹太阿什肯纳兹人群中如此罕见,但我们可以推测,某些阿什肯纳兹等位基因的纯合性可能是致命的,导致GD2的频率低于预期,并指出在阿什肯纳兹犹太人中从未描述过纯合L444P的病例。

相似文献

1
Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare.
Blood Cells Mol Dis. 2009 Nov-Dec;43(3):294-7. doi: 10.1016/j.bcmd.2009.08.004. Epub 2009 Sep 5.
2
Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population.
Hum Mutat. 1998;12(4):240-4. doi: 10.1002/(SICI)1098-1004(1998)12:4<240::AID-HUMU4>3.0.CO;2-J.
4
The 1226G (N370S) Gaucher mutation among patients with Legg-Calve-Perthes disease.
Blood Cells Mol Dis. 2003 Jul-Aug;31(1):72-4. doi: 10.1016/s1079-9796(03)00121-9.
6
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
Am J Hum Genet. 2000 Jun;66(6):1777-86. doi: 10.1086/302925. Epub 2000 May 4.
7
Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes.
JAMA Neurol. 2014 Jun;71(6):752-7. doi: 10.1001/jamaneurol.2014.313.
9
Mutation analysis of an Ashkenazi Jewish family with Gaucher disease in three successive generations.
Am J Med Genet. 1990 Aug;36(4):467-72. doi: 10.1002/ajmg.1320360419.

引用本文的文献

1
The clinical management of Type 2 Gaucher disease.
Mol Genet Metab. 2015 Feb;114(2):110-122. doi: 10.1016/j.ymgme.2014.11.008. Epub 2014 Nov 14.
3
A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.
Eur J Hum Genet. 2013 Jan;21(1):115-7. doi: 10.1038/ejhg.2012.105. Epub 2012 Jun 20.
4
Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.
Blood Cells Mol Dis. 2011 Jan 15;46(1):75-84. doi: 10.1016/j.bcmd.2010.08.012. Epub 2010 Sep 28.

本文引用的文献

1
[The brain changes in the infant's Gaucher disease].
Virchows Arch Pathol Anat Physiol Klin Med. 1948;315(3-4):395-406.
2
Type 2 Gaucher disease: 15 new cases and review of the literature.
Brain Dev. 2006 Jan;28(1):39-48. doi: 10.1016/j.braindev.2005.04.005.
3
Divergent phenotypes in Gaucher disease implicate the role of modifiers.
J Med Genet. 2005 Jun;42(6):e37. doi: 10.1136/jmg.2004.028019.
4
Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation.
Pediatr Res. 2000 Aug;48(2):233-7. doi: 10.1203/00006450-200008000-00018.
5
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
Am J Hum Genet. 2000 Jun;66(6):1777-86. doi: 10.1086/302925. Epub 2000 May 4.
6
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.
Hum Mutat. 2000;15(2):181-8. doi: 10.1002/(SICI)1098-1004(200002)15:2<181::AID-HUMU7>3.0.CO;2-S.
7
Type 2 gaucher disease: an expanding phenotype.
Mol Genet Metab. 1999 Oct;68(2):209-19. doi: 10.1006/mgme.1999.2918.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验