Reza Maroofian, Mina Zamani, Rauan Kaiyrzhanov, Lutz Liebmann, Ehsan Ghayoor Karimiani, Barbara Vona, Antje K Huebner, Daniel G Calame, Vinod K Misra, Saeid Sadeghian, Reza Azizimalamiri, Mohammad Hasan Mohammadi, Jawaher Zeighami, Sogand Heydaran, Mehran Beiraghi Toosi, Javad Akhondian, Meisam Babaei, Narges Hashemi, Rhonda E Schnur, Mohnish Suri, Jonas Setzke, Matias Wagner, Theresa Brunet, Christopher M Grochowski, Lisa Emrick, Wendy K Chung, Ute A Hellmich, Miriam Schmidts, James R Lupski, Hamid Galehdari, Mariasavina Severino, Henry Houlden, Christian A Hübner
PURPOSE: SLC4A10 encodes a plasma membrane-bound transporter, which mediates Na+ -dependent HCO3 - import thus mediating net acid extrusion. Slc4a10 knockout (KO) mice show collapsed brain ventricles, an increased seizure threshold, mild behavioral abnormalities, impaired vision, and deafness. METHODS: Utilizing exome/genome sequencing in families with undiagnosed neurodevelopmental disorders (NDD) and international data sharing, 11 patients from 6 independent families with biallelic variants in SLC4A10 were identified...
December 2, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics