Article
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
American journal of human genetics - 5 Aug 2021
Duncan Anna R, Polovitskaya Maya M, Gaitán-Peñas Héctor, Bertelli Sara, VanNoy Grace E, Grant Patricia E, O'Donnell-Luria Anne, Valivullah Zaheer, Lovgren Alysia Kern, England Elaina M, Agolini Emanuele, Madden Jill A, Schmitz-Abe Klaus, Kritzer Amy, Hawley Pamela, Novelli Antonio, Alfieri Paolo, Colafati Giovanna Stefania, Wieczorek Dagmar, Platzer Konrad, Luppe Johannes, Koch-Hogrebe Margarete, Abou Jamra Rami, Neira-Fresneda Juanita, Lehman Anna, Boerkoel Cornelius F, Seath Kimberly, Clarke Lorne, van Ierland Yvette, Argilli Emanuela, Sherr Elliott H, Maiorana Andrea, Diel Thilo, Hempel Maja, Bierhals Tatjana, Estévez Raúl, Jentsch Thomas J, Pusch Michael, Agrawal Pankaj B
Abstract excerpt
The genetic causes of global developmental delay (GDD) and intellectual disability (ID) are diverse and include variants in numerous ion channels and transporters. Loss-of-function variants in all five endosomal/lysosomal members of the CLC family of Cl- channels and Cl-/H+ exchangers lead to pathology in mice, humans, or both. We have identified nine variants in CLCN3, the gene encoding CIC-3, in 11 individuals...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.