Defects in mRNA splicing discovered as source of a rare intellectual disability syndrome
October 5, 2020
Northwestern Feinberg School of Medicine recognizes ACT-GeM discovery detailing the functional cause of a rare intellectual disability disorder called Armfield XLID Syndrome.
“This finding offers much needed information for the five families with children affected by this rare condition. For the original Armfield XLID family, this has been a more than 20-year journey toward a definitive answer.”
-Co-senior author Erica Davis, discussing the journey behind the discovery recently published in Nature Communications.
Contributors from ACT-GeM include co-lead author, Kamal Khan, co-author Marie Mooney, and co-senior author Erica Davis. This work was performed in collaboration with co-senior investigators at Greenwood Genetic Center in South Carolina and Chungnam National University in South Korea.
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