The Many Faces of Sensorineural Hearing Loss: One Founder and Two Novel Mutations Affecting One Family of Mixed Jewish Ancestry

Doron M. Behar; Bella Davidov; Zippora BrownsteinTamar Ben-YosefKaren B. AvrahamMordechai Shohat

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The Many Faces of Sensorineural Hearing Loss: One Founder and Two Novel Mutations Affecting One Family of Mixed Jewish Ancestry

机译：许多面临的感音神经性听力损失:1创始人和小说两个突变的影响混合的犹太血统的家庭

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Dramatic progress has been made in our understanding of the highly heterogeneous molecular bases of sensorineural hearing loss (SNHL), demonstrating the involvement of all known forms of inheritance and a plethora of genes tangled in various molecular pathways. This progress permits the provision of prognostic information and genetic counseling for affected families, which might, nevertheless, be exceedingly challenging. Here, we describe an intricate genetic investigation that included Sanger-type sequencing, BeadArray technology, and next-generation sequencing to resolve a complex case involving one family presenting syndromic and nonsyndromic SNHL phenotypes in two consecutive generations. We demonstrate and conclude that such an effort can be completed during pregnancy.

机译：在我们的生活中已经取得了引人注目的进展对高度异构的理解分子的感音神经性听力损失(SNHL),展示所有人的参与已知的继承和大量的形式基因的不同的分子途径。进步允许提供预后信息和遗传咨询的影响然而,家庭,这可能非常具有挑战性的。复杂的遗传调查,包括Sanger-type测序,BeadArray技术,下一代测序技术来解决一个复杂的案件涉及一个家庭综合征和nonsyndromic SNHL表型在两个连续几代人。得出结论,这样的努力可以完成在怀孕期间。

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《Genetic testing and molecular biomarkers》 |2014年第2期|123-126|共4页
作者
Doron M. Behar; Bella Davidov; Zippora BrownsteinTamar Ben-YosefKaren B. AvrahamMordechai Shohat;
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作者单位

Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel.;

Department of Genetics, The Rappaport Faculty of Medicine and Research Institute, Technion–Israel Institute of Technology, Haifa, Israel.;

Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.;

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原文格式 PDF
正文语种英语
中图分类 Q-028;
关键词
provisioning; Genetic counselling; descentPlethoraJewsfamilyDeafness, neurosensory;

机译：供应;遗传咨询;descentPlethoraJewsfamilyDeafness,感觉神经的;

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The Many Faces of Sensorineural Hearing Loss: One Founder and Two Novel Mutations Affecting One Family of Mixed Jewish Ancestry

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