Matias Wagner, Yuliya Skorobogatko, Ben Pode-Shakked, Cynthia M Powell, Bader Alhaddad, Annette Seibt, Ortal Barel, Gali Heimer, Chen Hoffmann, Laurie A Demmer, Yezmin Perilla-Young, Marc Remke, Dagmar Wieczorek, Tharsini Navaratnarajah, Peter Lichtner, Dirk Klee, Hanan E Shamseldin, Fuad Al Mutairi, Ertan Mayatepek, Tim Strom, Thomas Meitinger, Fowzan S Alkuraya, Yair Anikster, Alan R Saltiel, Felix Distelmaier
Ral (Ras-like) GTPases play an important role in the control of cell migration and have been implicated in Ras-mediated tumorigenicity. Recently, variants in RALA were also described as a cause of intellectual disability and developmental delay, indicating the relevance of this pathway to neuropediatric diseases. Here, we report the identification of bi-allelic variants in RALGAPA1 (encoding Ral GTPase activating protein catalytic alpha subunit 1) in four unrelated individuals with profound neurodevelopmental disability, muscular hypotonia, feeding abnormalities, recurrent fever episodes, and infantile spasms ...
February 6, 2020: American Journal of Human Genetics