Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.

Abouzeid H; Boisset G; Favez T; Youssef M; Marzouk I; Shakankiry N; Bayoumi N; Descombes P; Agosti C; Munier FL; Schorderet DF

首页> 外文期刊>The American Journal of Human Genetics >Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.

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Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.

机译：SPARC相关的模块化钙结合蛋白1基因SMOC1中的突变会导致Waardenburg失眼症候群。

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Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and anophthalmia-syndactyly, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23. Here we show that this disease is heterogeneous by reporting on a consanguineous family, not linked to the 10p11.23 locus, whose two affected children have a homozygous mutation in SMOC1. Knockdown experiments of the zebrafish smoc1 revealed that smoc1 is important in eye development and that it is expressed in many organs, including brain and somites.

机译：Waardenburg失眼症候群，也称为肢体异常，眼球斜视综合症和无眼症的小眼症，是一种罕见的常染色体隐性发育障碍，已被定位为10p11.23。在这里，我们通过在一个近亲家庭中报告该疾病是异质的，该近亲家庭与10p11.23位点没有联系，后者的两个受影响的孩子在SMOC1中具有纯合突变。斑马鱼smoc1的基因敲除实验表明，smoc1在眼睛发育中很重要，并且在许多器官中表达，包括脑和牙节。

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《The American Journal of Human Genetics》 |2011年第1期|共7页
作者
Abouzeid H; Boisset G; Favez T; Youssef M; Marzouk I; Shakankiry N; Bayoumi N; Descombes P; Agosti C; Munier FL; Schorderet DF;
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1. Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome. [J] . Abouzeid H, Boisset G, Favez T, The American Journal of Human Genetics . 2011,第1期

机译：SPARC相关的模块化钙结合蛋白1基因SMOC1中的突变会导致Waardenburg失眼症候群。
2. Role of secreted modular calcium-binding protein 1 (SMOC1) in transforming growth factor beta signalling and angiogenesis [J] . Awwad Khader, Hu Jiong, Shi Lei, Cardiovascular Research . 2015,第2期

机译：分泌的模块化钙结合蛋白1（SMOC1）在转化生长因子β信号传导和血管生成中的作用
3. Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome. [J] . Chen H, Jiang L, Xie Z, Biochemical and Biophysical Research Communications . 2010,第1期

机译：中国I型或II型Waardenburg综合征患者中PAX3，MITF和SOX10基因的新型突变。
4. Sarcomere protein gene mutations and inherited heart disease: a beta-cardiac myosin heavy chain mutation causing endocardial fibroelastosis and heart failure [C] . Mitsuhiro Kamisago, Joachim P. Schmitt, Dennis McNamara, Symposium on heart failure: Molecules, mechanisms and therapeutic targets . 2006

机译：Sarcomere蛋白质基因突变和遗传性心脏病：β-心肌肌苷重链突变导致心内膜肌肌瘤和心力衰竭
5. Diverse mechanisms of human genetic disease: Splice order determination in the COL1A2 gene. Effects that influence splice site mutations in osteogenesis imperfecta and a translocation disrupting SNRPN gene causes Prader-Willi syndrome. [D] . Kuslich, Christine D. 1999

机译：人类遗传疾病的多种机制：COL1A2基因的剪接顺序确定。影响成骨不全症中剪接位点突变和易位破坏SNRPN基因的效应会导致Prader-Willi综合征。
6. Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene SMOC1 Cause Waardenburg Anophthalmia Syndrome [O] . Hana Abouzeid, Gaëlle Boisset, Tatiana Favez, 2011

机译：SPARC相关的模块化钙结合蛋白1基因SMOC1中的突变导致Waardenburg无眼症候群
7. Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome [O] . Abouzeid, Hana, Boisset, Gaëlle, Favez, Tatiana, 2011

机译：SPARC相关的模块化钙结合蛋白1基因SMOC1中的突变，导致Waardenburg无眼症候群
8. JSC Exit Presentation: Effects of Genetics and Mutations on Acquired Long QT Syndrome. [R] . McFadden, R. 2014

机译：JsC退出演示：遗传和突变对获得性长QT综合征的影响。

Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.

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