Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families.
Mutations of the KCNJ2 gene are a major underlying cause of Andersen-Tawil syndrome (ATS), a rare autosomal dominant inherited disorder that is characterized by periodic paralysis, cardiac arrhythmias, and developmental dysmorphic features. The KCNJ2 gene encodes an inward rectifying K(+) channel protein, Kir2.1, which plays an important role in maintaining the homeostasis of channel current in various cell types. We have identified two missense mutations of KCNJ2 (R218Q and M307I) in two Korean families diagnosed with ATS. The M307I mutation is a novel mutation, located at the intracellular C-terminal domain, which is known to be concerned with putative phosphatidylinositol 4,5-bisphosphate (PIP(2)) binding and channel trafficking.
Choi
Byung-Ok
BO
Department of Neurology, Ewha Womans University Collage of Medicine, Seoul, South Korea.
Kim
Joonki
J
Department of Biological Science, Kongju National University, 182 Sinkwan-dong, Gongju, Chungnam, 314-701, South Korea.
Suh
Bum Chun
BC
Department of Neurology, Yonsei University Collage of Medicine, Seoul, South Korea.
Yu
Jin Seok
JS
Department of Biological Science, Kongju National University, 182 Sinkwan-dong, Gongju, Chungnam, 314-701, South Korea.
Sunwoo
Il Nam
IN
Department of Neurology, Yonsei University Collage of Medicine, Seoul, South Korea.
Kim
Song Ja
SJ
Department of Biological Science, Kongju National University, 182 Sinkwan-dong, Gongju, Chungnam, 314-701, South Korea.
Kim
Gwang Hoon
GH
Department of Biological Science, Kongju National University, 182 Sinkwan-dong, Gongju, Chungnam, 314-701, South Korea.
Chung
Ki Wha
KW
Department of Biological Science, Kongju National University, 182 Sinkwan-dong, Gongju, Chungnam, 314-701, South Korea. kwchung@kongju.ac.kr.
D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D050030:Andersen Syndrome / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005145:Face / Q000002:abnormalities; D020022:Genetic Predisposition to Disease; D006801:Humans; D007723:Korea / Q000208:ethnology; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D024661:Potassium Channels, Inwardly Rectifying / Q000737:chemistry / Q000235:genetics*
C489457:KCNJ2 protein, human; D024661:Potassium Channels, Inwardly Rectifying