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Doctors & Researchers

There is exciting research in progress and we will update this site as more is released!
MyGene2 is also a great resource to review profiles and connect with families and researchers.

Research Resources

LSD1/KDM1A mutations associated to a newly described form of intellectual disability impair demethylase activity and binding to transcription factors

The most recent medical paper on human KDM1A/LSD1 mutations was published in Human Molecular Genetics in April 2016. It analyzes the effects of KDM1A mutations in three patients on the structure, stability and activity of LSD1 using both in vitro and cellular approaches. The paper concludes that these mutations lead to a partial impairment of catalytic activity, and perturb the ability of LSD1 to engage transcription factors that influence development. These effects indicate the relevance of LSD1 in gene regulation and organism development.

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

The second medical paper on human KDM1A/LSD1 mutations was published in Genetics in Medicine in December 2015. At this time, there were three known KDM1A patients. The paper noted that social networking is a powerful strategy to discover genes for rare Mendelian conditions. The authors were the developers of MyGene2, a web-based repository that enables families, clinicians and researchers to search for gene matches based on analysis of phenotype and exome data.

De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome

Published in the American Journal of Medical genetics in May 2014, this paper posited that KDM1A could be the source of developmental delays in the featured patient. However, since the featured patient was the first KDM1A case in the medical literature, the authors also mentioned that an ANKRD11 mutation could have also been a contributor. Since then, we have learned that the ANKRD11 mutation is unlikely to have had much impact and the KDM1A mutation is likely the key driver behind the patient’s development delays

Connect with us

If you are or know of a researcher interested in epigenetics and / or KDM1A/LSD1 please get in touch with us.

Our community is always happy to assist in any way on future research projects that build our knowledge of this disorder and allow us to help our kids be the best that they can be!
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You can also email us directly at kdm1aresources@gmail.com