Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Suzanna G. M. Frints*, Friederike Hennig, Roberto Colombo, Sebastien Jacquemont, Paulien Terhal, Holly H. Zimmerman, David Hunt, Bryce A. Mendelsohn, Ulrike Kordass, Richard Webster, Margje Sinnema, Omar Abdul-Rahman, Vanessa Suckow, Alberto Fernandez-Jaen, Kees van Roozendaal, Servi J. C. Stevens, Merryn V. E. Macville, Salwan Al-Nasiry, Koen van Gassen, Norbert UtzigSuzanne M. Koudijs, Lesley McGregor, Saskia M. Maas, Diana Baralle, Abhijit Dixit, Peter Wieacker, Marcus Lee, Arthur S. Lee, Elizabeth C. Engle, Gunnar Houge, Gyri A. Gradek, Andrew G. L. Douglas, Cheryl Longman, Shelagh Joss, Danita Velasco, Raoul C. Hennekam, Hiromi Hirata, Vera M. Kalscheuer

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)2270-2285
Number of pages16
JournalHuman Mutation
Volume40
Issue number12
DOIs
Publication statusPublished - Dec 2019

Keywords

  • fetal hypo-
  • akinesia
  • club foot
  • -feet
  • complicated spastic paraplegia
  • spasticity
  • Xq11
  • 2 microdeletion
  • INTELLECTUAL DISABILITY
  • MENTAL-RETARDATION
  • MUTATIONS
  • GENE
  • CONTRACTURES
  • SPECTRUM
  • METHYLATION
  • DIAGNOSIS
  • DELETIONS
  • EXCHANGE

Cite this

Frints, S. G. M., Hennig, F., Colombo, R., Jacquemont, S., Terhal, P., Zimmerman, H. H., Hunt, D., Mendelsohn, B. A., Kordass, U., Webster, R., Sinnema, M., Abdul-Rahman, O., Suckow, V., Fernandez-Jaen, A., van Roozendaal, K., Stevens, S. J. C., Macville, M. V. E., Al-Nasiry, S., van Gassen, K., ... Kalscheuer, V. M. (2019). Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. Human Mutation, 40(12), 2270-2285. https://doi.org/10.1002/humu.23841