Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

Kezhi Yan, Justine Rousseau, Rebecca Okashah Littlejohn, Courtney Kiss, Anna Lehman, Jill A. Rosenfeld, Constance T. R. Stumpel, Alexander P. A. Stegmann, Laurie Robak, Fernando Scaglia, Thi Tuyet Mai Nguyen, He Fu, Norbert F. Ajeawung, Maria Vittoria Camurri, Lin Li, Alice Gardham, Bianca Panis, Mohammed Almannai, Maria J. Guillen Sacoto, Berivan BaskinClaudia Ruivenkamp, Fan Xia, Weimin Bi, Megan T. Cho, Thomas P. Potjer, Gijs W. E. Santen, Michael J. Parker, Natalie Canham, Margaret McKinnon, Lorraine Potocki, Jennifer J. MacKenzie, Elizabeth R. Roeder, Philippe M. Campeau, Xiang-Jiao Yang, DDD Study, CAUSES Study

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)91-104
Number of pages14
JournalAmerican Journal of Human Genetics
Volume100
Issue number1
DOIs
Publication statusPublished - 5 Jan 2017

Keywords

  • HEMATOPOIETIC STEM-CELLS
  • ZINC-FINGER PROTEIN
  • CAUSE GENITOPATELLAR SYNDROME
  • DE-NOVO MUTATIONS
  • CAENORHABDITIS-ELEGANS
  • HBO1 ACETYLTRANSFERASE
  • PHD FINGER
  • PZP DOMAIN
  • KAT6B
  • EXPRESSION

Cite this

Yan, K., Rousseau, J., Littlejohn, R. O., Kiss, C., Lehman, A., Rosenfeld, J. A., Stumpel, C. T. R., Stegmann, A. P. A., Robak, L., Scaglia, F., Thi Tuyet Mai Nguyen, Fu, H., Ajeawung, N. F., Camurri, M. V., Li, L., Gardham, A., Panis, B., Almannai, M., Sacoto, M. J. G., ... CAUSES Study (2017). Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. American Journal of Human Genetics, 100(1), 91-104. https://doi.org/10.1016/j.ajhg.2016.11.011