In June 2014, Dr. Rosenbaum called to inform us that he had just learned of five other children globally with a KAT6A anomaly that each shared a least some of Chloe’s physical or neurologic symptoms. Since 2014, over 60 boys and girls have been discovered to have the KAT6A genetic mutation and have contacted us through this website. These children live in countries including Argentina, Australia, Dominican Republic, England, Finland, Ireland, Israel, Spain, Sweden, and Venezuela and we maintain supportive communication through a Facebook group.
To date, three journal articles reviewing the effects of the KAT6A mutation on development have been published:
Arboleda et al., De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay, The American Journal of Human Genetics (2015), http://dx.doi.org/10.1016/j.ajhg.2015.01.017
Tham et al., Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features, The American Journal of Human Genetics (2015), http://dx.doi.org/10.1016/j.ajhg.2015.01.016
Millan F, Cho MT, Retterer K, Monaghan KG, Bai R, Vitazka P, Everman DB, Smith B, Angle B, Roberts V, Immken L, Nagakura H, DiFazio M, Sherr E, Haverfield E, Friedman B, Telegrafi A, Juusola J, Chung WK, Bale S. 2016. Whole Exome Sequencing Reveals De Novo Pathogenic Variants in KAT6A as a Cause of a Neurodevelopmental Disorder. American Journal of Medical Genetics Part A 9999A:1–8
Our family group supports ongoing research through a partnership with Dr. Arboleda and Dr. Nelson at the Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, and Children’s National Medical Center in Washington, DC.
We are fundraising in support of their fundamental research. To support this research, you can donate through Chloe’s dedicated research fund at Children’s National Medical Center: