Fragile-X Syndrome

1. Front Matter

   Pages i-x

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2. FXS: Full Mutation

   1. Front Matter

      Pages 1-1

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   2. Fragile X Syndrome: Introduction

      • Adi Reches

      Pages 3-10

   3. Clinical Genetic Testing for Fragile X Syndrome by Polymerase Chain Reaction Amplification and Southern Blot Analyses

      • Xiaoqiang Cai, Mohammad Arif, Haolei Wan, Ruth Kornreich, Lisa J. Edelmann

      Pages 11-27

   4. Monitoring for Epigenetic Modifications at the FMR1 Locus

      • Silvina Epsztejn-Litman, Rachel Eiges

      Pages 29-48

   5. Assays for Determining Repeat Number, Methylation Status, and AGG Interruptions in the Fragile X-Related Disorders

      • Bruce E. Hayward, Karen Usdin

      Pages 49-59

   6. One-Step Generation of Seamless Luciferase Gene Knockin Using CRISPR/Cas9 Genome Editing in Human Pluripotent Stem Cells

      • Meng Li, Jack Faro Vander Stoep Hunt, Anita Bhattacharyya, Xinyu Zhao

      Pages 61-69

   7. Modeling FXS with Mouse Neural Progenitors

      • Ulla-Kaisa Peteri, Maija L. Castrén

      Pages 71-78

   8. Using Human Neural Progenitor Cell Models to Conduct Large-Scale Drug Screens for Neurological and Psychiatric Diseases

      • Jack Faro Vander Stoep Hunt, Meng Li, Xinyu Zhao, Anita Bhattacharyya

      Pages 79-88

   9. Modeling FXS: Human Pluripotent Stem Cells and In Vitro Neural Differentiation

      • Liron Kuznitsov-Yanovsky, Yoav Mayshar, Dalit Ben-Yosef

      Pages 89-100

   10. Induced Neurons for the Study of Neurodegenerative and Neurodevelopmental Disorders

       • Evelyn J. Sauter, Lisa K. Kutsche, Simon D. Klapper, Volker Busskamp

       Pages 101-121Open Access

   11. Imaging of Somatic Ca2+ Transients in Differentiated Human Neurons

       • Irena Vertkin, Dalit Ben-Yosef

       Pages 123-129

   12. Patch-Clamp Recordings from Human Embryonic Stem Cells-Derived Fragile X Neurons

       • Michael Telias, Menahem Segal

       Pages 131-139

   13. Application of Drosophila Model Toward Understanding the Molecular Basis of Fragile X Syndrome

       • Ha Eun Kong, Junghwa Lim, Peng Jin

       Pages 141-153

   14. Fragile X Syndrome Pre-Clinical Research: Comparing Mouse- and Human-Based Models

       • Michael Telias

       Pages 155-162

3. FX Premutation

   1. Front Matter

      Pages 163-163

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   2. Pathophysiology Mechanisms in Fragile-X Primary Ovarian Insufficiency

      • Shai E. Elizur, Moran Friedman Gohas, Olga Dratviman-Storobinsky, Yoram Cohen

      Pages 165-171

   3. Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)

      • Marwa Zafarullah, Flora Tassone

      Pages 173-189

4. Back Matter

   Pages 191-192

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This volume discusses the latest technologies used to study all aspects of Fragile-X Syndrome (FXS). The chapters in this book cover topics such as monitoring for epigenetic modifications at the FMR1 locus; modeling FXS with human pluripotent stem cells, mouse neural progenitors; mouse versus human-based models for FXS pre-clinical research; and Fragile-X associated with Tremor/Ataxia Syndrome (FXTAS). Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls.



Cutting-edge and thorough, Fragile-X Syndrome: Methods and Protocols is a valuable tool to help scientists working towards one day developing a therapeutic solution to improve the symptoms of FXS.


Chapter "Induced Neurons for the Study of Neurodegenerative and Neurodevelopmental Disorders" is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.

• Ataxia Syndrome
• FXTAS
• drosophila
• c. elegans
• CRISPR

“The main audience is basic scientists involved in laboratory medicine, but there is enough clinical information to attract the attention of clinicians. Clinical geneticists may find it interesting as the questions asked by current technology provide answers to the phenotypic clinical variances observed. Graduate students involved in fragile X syndrome would find this book essential. … The illustrations are well selected and appropriate.” (Luis F Escobar, Doody's Book Reviews, June 07, 2019)

• Wolfe PGD Stem Cell Lab, Racine IVF Unit at Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel

  Dalit Ben-Yosef, Yoav Mayshar

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