Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.

@article{SantiagoSim2017BiallelicVI,
  title={Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.},
  author={Teresa Santiago-Sim and Lindsay C Burrage and Fr{\'e}d{\'e}ric Ebstein and Svetlana A. Mikheeva and Marcus J. Miller and Weimin Bi and Alicia A. Braxton and Jill A Rosenfeld and Maher Awni Shahrour and Andrea Lehmann and Benjamin Cogn{\'e} and S{\'e}bastien K{\"u}ry and Thomas Besnard and Bertrand Isidor and St{\'e}phane B{\'e}zieau and Isabelle Hazart and Honey Nagakura and Ladonna L Immken and Rebecca Okashah Littlejohn and Elizabeth R. Roeder and Bulent Kara and Katia Hardies and Sarah Weckhuysen and Patrick May and Johannes R Lemke and Orly Elpeleg and Bassam Y Abu-Libdeh and Kiely N James and Jennifer L. Silhavy and Mahmoud Y Issa and Maha S Zaki and Joseph G Gleeson and John R. Seavitt and Mary E. Dickinson and M. Cecilia Ljungberg and Sara Wells and Sara Jane Johnson and Lydia Teboul and Christine M. Eng and Yaping Yang and Peter Michael Kloetzel and Jason D Heaney and Magdalena Walkiewicz},
  journal={American journal of human genetics},
  year={2017},
  volume={100 4},
  pages={
          676-688
        }
}
Ubiquitination is a posttranslational modification that regulates many cellular processes including protein degradation, intracellular trafficking, cell signaling, and protein-protein interactions. Deubiquitinating enzymes (DUBs), which reverse the process of ubiquitination, are important regulators of the ubiquitin system. OTUD6B encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Herein, we report biallelic pathogenic variants in OTUD6B in 12… CONTINUE READING
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