Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

  title={Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities},
  author={Jennelle C. Hodge and Elyse Mitchell and Vamsee K Pillalamarri and Tomi L Toler and Frank Bartel and Hutton M. Kearney and Ying S. Zou and Wei Hong Tan and Carrie Hanscom and Sara Kirmani and Russell Reid Hanson and Steve A. Skinner and Richard Curtis Rogers and David B Everman and Ernie Boyd and Carlyn Tapp and Sureni V. Mullegama and Debra Keelean-Fuller and Cynthia M Powell and Sarah H Elsea and Cynthia C Morton and James F. Gusella and Barb DuPont and Ashutosh Kumar Chaubey and Angela E. Lin and Michael E Talkowski},
  journal={Molecular Psychiatry},
Microdeletions of chromosomal region 2q23.1 that disrupt MBD5 (methyl-CpG-binding domain protein 5) contribute to a spectrum of neurodevelopmental phenotypes; however, the impact of this locus on human psychopathology has not been fully explored. To characterize the structural variation landscape of MBD5 disruptions and the associated human psychopathology, 22 individuals with genomic disruption of MBD5 (translocation, point mutation and deletion) were identified through whole-genome sequencing… CONTINUE READING
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