In-frame deletion of SPECC1L microtubule binding domain results in embryonic tissue movement and fusion defects
Jeremy P. Goering, Luke W. Wenger, Marta Stetsiv, Michael Moedritzer, Everett G. Hall, Dona Greta Isai, Brittany Jack, Zaid Umar, Madison K. Rickabaugh, András Czirók, Irfan Saadi
This study shows that in-frame deletions in the SPECC1L CCD2 domain cause embryonic tissue movement and fusion defects, leading to cleft palate and exencephaly, and identifies CCD2 as a gain-of-function mutation.
bioRxiv · Jan 28, 2021 · PreprintDevelopmental Biology