TY - JOUR
T1 - Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis
AU - Webb, Bryn D.
AU - Hotchkiss, Hilary
AU - Prasun, Pankaj
AU - Gelb, Bruce D.
AU - Satlin, Lisa
N1 - Publisher Copyright:
© 2021, The Author(s), under exclusive licence to European Society of Human Genetics.
PY - 2021/10
Y1 - 2021/10
N2 - KCNJ16 encodes Kir5.1 and acts in combination with Kir4.1, encoded by KCNJ10, to form an inwardly rectifying K+ channel expressed at the basolateral membrane of epithelial cells in the distal nephron. This Kir4.1/Kir5.1 channel is critical for controlling basolateral membrane potential and K+ recycling, the latter coupled to Na-K-ATPase activity, which determines renal Na+ handling. Previous work has shown that Kcnj16−/− mice and SSKcnj16−/− rats demonstrate hypokalemic, hyperchloremic metabolic acidosis. Here, we present the first report of a patient identified to have biallelic loss-of-function variants in KCNJ16 by whole exome sequencing who presented with chronic metabolic acidosis with exacerbations triggered by minor infections.
AB - KCNJ16 encodes Kir5.1 and acts in combination with Kir4.1, encoded by KCNJ10, to form an inwardly rectifying K+ channel expressed at the basolateral membrane of epithelial cells in the distal nephron. This Kir4.1/Kir5.1 channel is critical for controlling basolateral membrane potential and K+ recycling, the latter coupled to Na-K-ATPase activity, which determines renal Na+ handling. Previous work has shown that Kcnj16−/− mice and SSKcnj16−/− rats demonstrate hypokalemic, hyperchloremic metabolic acidosis. Here, we present the first report of a patient identified to have biallelic loss-of-function variants in KCNJ16 by whole exome sequencing who presented with chronic metabolic acidosis with exacerbations triggered by minor infections.
UR - http://www.scopus.com/inward/record.url?scp=85104123558&partnerID=8YFLogxK
U2 - 10.1038/s41431-021-00883-0
DO - 10.1038/s41431-021-00883-0
M3 - Article
C2 - 33840812
AN - SCOPUS:85104123558
SN - 1018-4813
VL - 29
SP - 1566
EP - 1569
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 10
ER -