KIAA1109 variants are associated with a severe disorder of brain development and arthrogryposis

• Main Authors: Roechert, Bernd, Van Hasselt, Peter M., Monroe, Glen R., Lai, Angeline Hwei Meeng, Ambusaidi Qamariya, Ambrozaitytė, Laima, Preikšaitienė, Eglė, Gueneau, Lucie, Tran-Mau-Them, Frédéric, Fish, Richard J., Shamseldin, Hanan E., Voisin, Norine, Allias, Fabienne, Jamuar Saumya Shekhar, Lim, J. Ying, Bonnard, Carine, Wright, Caroline F., Putoux, Audrey, Cimbalistienė, Loreta, Delafontaine, Julien, Guex, Nicolas, Hashem Mais, Kurdi Wesam, Pradervand, Sylvain, Reversade, Bruno, Xenarios, Ioannis, Lesca, Gaëtan, Pippucci, Tommaso, Wiederkehr, Michaël, Van Haaften, Gijs W., Shaw-Smith, Charles J., Schindewolf, Erica M., Reymond, Alexandre, Sanlaville, Damien, Guibaud, Laurent, Kučinskas, Vaidutis, Chelly, Jamel, Alkuraya, Fowzan S.
• 其他作者: Lee Kong Chian School of Medicine (LKCMedicine)
• 格式: Article
• 語言: English
• 出版: 2019
• 主題: Brain Malformations; Clubfoot; DRNTU::Science::Medicine
• 在線閱讀: https://hdl.handle.net/10356/104165; http://hdl.handle.net/10220/47895

Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with overlapping clinical manifestations identified loss-of-function and missense variants in KIAA1109 allowing delineation of an autosomal-recessive multi-system syndrome, which we suggest to name Alkuraya-Kučinskas sy...