Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

@article{Laqurriere2014MutationsIC,
  title={Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.},
  author={Annie Laqu{\'e}rriere and J{\'e}r{\^o}me Maluenda and Adrien Camus and Laura Fontenas and Klaus Dieterich and Flora Nolent and Ji{\'e} Zhou and Nicole Monnier and Philippe Latour and Damien Gentil and D{\'e}lphine Heron and Isabelle Desguerres and Pierre Georges Landrieu and Claire B{\'e}n{\'e}teau and Benoit Delaporte and C{\'e}line Bellesme and Clarisse Baumann and Yline Capri and Alice Goldenberg and Stanislas Lyonnet and D. Bonneau and Brigitte Estournet and Susana Quijano-Roy and Christine Francannet and Sylvie Odent and Marie-H{\'e}l{\`e}ne Saint-Frison and Sabine Sigaudy and Dominique F. Figarella-Branger and Antoinette G{\'e}lot and Jean-Marie Gilbert Mussini and Catherine Lacroix and Val{\'e}rie Drouin-Garraud and Marie-Claire Malinge and Tania Atti{\'e}-Bitach and Bettina Bessi{\`e}res and Maryse Bonni{\`e}re and F{\'e}r{\'e}cht{\'e} Encha-Razavi and Anne-Marie Beaufr{\`e}re and Suonary Khung-Savatovsky and Marie Jos{\'e} Perez and Alexandre Vasiljevic and Sandra Mercier and Joelle Roume and Laetitia Trestard and Pascale Saugier-V{\'e}ber and M Cordier and Val{\'e}rie Layet and Marine Legendre and Adeline Vigouroux-Castera and Joel Lunardi and M{\'o}nica Bay{\'e}s and Pierre Simon Jouk and Luc Rigonnot and Mich{\`e}le Granier and Damien Sternberg and Josiane Warszawski and Ivo G Gut and Marie Gonzal{\`e}s and Marcel Tawk and Judith Melki},
  journal={Human molecular genetics},
  year={2014},
  volume={23 9},
  pages={2279-89}
}
Non-syndromic arthrogryposis multiplex congenita (AMC) is characterized by multiple congenital contractures resulting from reduced fetal mobility. Genetic mapping and whole exome sequencing (WES) were performed in 31 multiplex and/or consanguineous undiagnosed AMC families. Although this approach identified known AMC genes, we here report pathogenic mutations in two new genes. Homozygous frameshift mutations in CNTNAP1 were found in four unrelated families. Patients showed a marked reduction in… CONTINUE READING
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