A frameshift mutation of β subunit of epithelial sodium channel in a case of isolated Liddle syndrome

Journal of Hypertension

Volumn 20, Issue 12, 2002, Pages 2379-2382

  Nakano, Yukiko ^a   Ishida, Takafumi ^a   Ozono, Ryoji ^a   Matsuura, Hideo ^a   Yamamoto, Yuji ^b   Kambe, Masayuki ^a   Chayama, Kazuaki ^a   Oshima, Tetsuya ^a  

^a HIROSHIMA UNIVERSITY   (Japan)

^b OKAYAMA UNIVERSITY   (Japan)

Author keywords

Epithelial sodium channel; Hypertension; Liddle syndrome; Mutation; subunit

Indexed keywords

SODIUM CHANNEL;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BETA CHAIN; CARBOXY TERMINAL SEQUENCE; CASE REPORT; DNA SEQUENCE; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; HYPERTENSION; HYPOKALEMIA; JAPAN; LIDDLE SYNDROME; MISSENSE MUTATION; NEPHRON; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN MOTIF; SEQUENCE ANALYSIS; SODIUM ABSORPTION; STOP CODON;

EID: 0036910610     PISSN: 02636352     EISSN: None     Source Type: Journal    
DOI: 10.1097/00004872-200212000-00016     Document Type: Article

References (19)

1. Botero-Velez M, Curtis JJ, Wamock DG. Liddle's syndrome revisited a disorder of sodium reabsorption in the distal tubule. N Engl J Med 1994; 330:178-181.
2. Canessa CM, Horisberger JD, Rossier BC. Epithelial sodium channel related to proteins involved in neurodegeneration. Nature 1993; 361:467-470.
3. Canessa CM, Schild L, Buell G. Amiloride-sensitive epithelial Na channel is made of three homologous subunits. Nature 1994; 367:463-467.
4. Inoue J, Iwaoka T, Tokunaga H, Takamune K, Naomi S, Araki M, et al. A family with Liddle's syndrome caused by a new missense mutation in the βsubunit of the epithelial sodium channel. J Clin Endocrin Metab 1998; 83; 2210-2213.
5. Hansson JH, Schild L, Lu Y, Wilson TA, Gautshi I, Shimkets R, et al. A de novo missense mutation of the β subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity. Proc Natl Acad Sci USA 1995; 92:11495-11499.
6. Gao PJ, Zhang KX, Zhu DL, He X, Han ZY, Zhan YM, Yang LW. Diagnosis of Liddle syndrome by genetic analysis of beta and gamma subunits of epithelial sodium channel-a report of five affected family members. J Hypertens 2001; 19:885-889.
7. Yamashita Y, Koga M, Takeda Y, Enomoto N, Uchida S, Hashimoto K, et al. Two sporadic cases of Liddle's syndrome caused by de novo frameshift mutations. Am J Kid Dis 2001; 37:499-504.
8. Tamura H, Schild L, Enomoto N, Matsui N, Marumo F, Rossier BC, Sasaki S. Liddle disease caused by a missense mutation of βsubunit of the epithelial sodium channel gene. J Clin Invest 1996; 97;1780-1784.
9. Su Y, Masson A. Epithelial sodium channels and hypertension. Drug Metab Dispos 2001; 29:553-556.
10. Inoue T, Okaguchi Y, Shintani Y, Bando H, Saito S. Identification of a single cytosine base insertion mutation at Arg-597 of the subunit of the beta human epithelial sodium channel in a family with Liddle's syndrome. Eur J Endocrinology 1998; 138:691-697.
11. Shimkets R, Warnock DG, Bositis CM, Nelson-Williams C, Hasson JH, Schambelan M, et al. Liddle's syndrome: Heritable human hypertension caused by mutations in the βsubunit of the epithelial sodium channel. Cell 1994; 79:407-414.
12. Kyuma M, Ura N, Toril T, Takeuchi H, Takizawa H, Kitamura K, et al. A family with Liddle's syndrome caused by a mutation in the beta subunit of the epithelial sodium channel. Clin Exp Hypertens 2001; 23:471-478.
13. Hansson JH, Nelson-Williams C, Suzuki H, Schild L, Shimkets R, Lu Y, et al. Hypertension caused by a truncated epithelial sodium channel γ subunit: Genetic heterogeneity of Liddle syndrome. Nature Genet 1995; 11:76-82.
14. + channel (ENaC) by ubiquitination. EMBO J 1997; 16:6325-6336.
15. + channel deleted in Liddle's syndrome. EMBO J 1996; 15:2371-2380.
16. + channel by interaction of Nedd4 with a PY motif deleted in Liddle's syndrome. J Biol Chem 1999; 273: 30012-30017.
17. + channel by Nedd4 in Liddle's syndrome. J Clin Invest 1999; 103:667-673.
18. Schild L, Lu Y, Gautschi I, Schneeberger E, Lifton RP, Rossier BC. Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome. EMBO J 1996; 15;2381-2387.
19. Uehara Y, Sasaguri M, Kinoshita A, Tsuji E, Kiyose H, Taniguchi H, et al. Genetic analysis of the epithelial sodium channel in Liddle's syndrome. J Hypertens 1998; 16:1131-1135.