ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

doi:10.1016/j.ajhg.2013.03.021

Article

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

American journal of human genetics - 2 May 2013

Hirata Hiromi, Nanda Indrajit, van Riesen Anne, McMichael Gai, Hu Hao, Hambrock Melanie, Papon Marie-Amélie, Fischer Ute, Marouillat Sylviane, Ding Can, Alirol Servane, Bienek Melanie, Preisler-Adams Sabine, Grimme Astrid, Seelow Dominik, Webster Richard, Haan Eric, MacLennan Alastair, Stenzel Werner, Yap Tzu Ying, Gardner Alison, Nguyen Lam Son, Shaw Marie, Lebrun Nicolas, Haas Stefan A, Kress Wolfram, Haaf Thomas, Schellenberger Elke, Chelly Jamel, Viot Géraldine, Shaffer Lisa G, Rosenfeld Jill A, Kramer Nancy, Falk Rena, El-Khechen Dima, Escobar Luis F, Hennekam Raoul, Wieacker Peter, Hübner Christoph, Ropers Hans-Hilger, Gecz Jozef, Schuelke Markus, Laumonnier Frédéric, Kalscheuer Vera M

Abstract excerpt

Arthrogryposis multiplex congenita (AMC) is caused by heterogeneous pathologies leading to multiple antenatal joint contractures through fetal akinesia. Understanding the pathophysiology of this disorder is important for clinical care of the affected individuals and genetic counseling of the families. We thus aimed to establish the genetic basis of an AMC subtype that is associated with multiple dysmorphic...

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ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

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