Ontology highlight
ABSTRACT:
SUBMITTER: Kahle KT
PROVIDER: S-EPMC5506493 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Kahle Kristopher T KT Flores Bianca B Bharucha-Goebel Diana D Zhang Jinwei J Donkervoort Sandra S Hegde Madhuri M Hussain Gulnaz G Duran Daniel D Liang Bo B Sun Dandan D Bönnemann Carsten G CG Delpire Eric E
Science signaling 20160802 439
Using exome sequencing, we identified a de novo mutation (c.2971A>G; T991A) in SLC12A6, the gene encoding the K(+)-Cl(-) cotransporter KCC3, in a patient with an early-onset, progressive, and severe peripheral neuropathy primarily affecting motor neurons. Normally, the WNK kinase-dependent phosphorylation of T(991) tonically inhibits KCC3; however, cell swelling triggers Thr(991) dephosphorylation to activate the transporter and restore cell volume. KCC3 T991A mutation in patient cells abolished ...[more]