An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome

Progress in Biophysics and Molecular Biology

Volumn 98, Issue 2-3, 2008, Pages 319-327

  Bhuiyan, Zahurul A ^a   Momenah, Tarek S ^b   Amin, Ahmad S ^a   Al Khadra, Ayman S ^b   Alders, Marielle ^a   Wilde, Arthur A M ^a   Mannens, Marcel M A M ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b Prince Sultan Cardiac Centre   (Saudi Arabia)

Author keywords

Hearing rescue; Intronic mutation; KCNQ1; Long QT syndrome

Indexed keywords

COMPLEMENTARY DNA; KCNQ1 PROTEIN, HUMAN; POTASSIUM CHANNEL KCNQ1;

ADOLESCENT; ARTICLE; CONSANGUINITY; ELECTROCARDIOGRAPHY; EXON; FEMALE; FOUNDER EFFECT; GENETICS; HEARING IMPAIRMENT; HOMOZYGOTE; HUMAN; INTRON; LONG QT SYNDROME; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE; PRESCHOOL CHILD; SAUDI ARABIA;

ADOLESCENT; BASE SEQUENCE; CHILD, PRESCHOOL; CONSANGUINITY; DEAFNESS; DNA, COMPLEMENTARY; ELECTROCARDIOGRAPHY; EXONS; FEMALE; FOUNDER EFFECT; HOMOZYGOTE; HUMANS; INTRONS; JERVELL-LANGE NIELSEN SYNDROME; KCNQ1 POTASSIUM CHANNEL; MALE; MUTATION; PEDIGREE; SAUDI ARABIA;

EID: 61849173535     PISSN: 00796107     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pbiomolbio.2008.10.004     Document Type: Article

References (26)

1. Bhuiyan Z.A., Momenah T.S., Gong Q., Amin A.S., Ghamdi S.A., Carvalho J.S., Homfray T., Mannens M.M., Zhou Z., and Wilde A.A. Recurrent intrauterine fetal loss due to near absence of HERG: clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation. Heart Rhythm 5 (2008) 553-561
2. Chen Q., Zhang D., Gingell R.L., Moss A.J., Napolitano C., Priori S.G., Schwartz P.J., Kehoe E., Robinson J.L., Schulze-Bahr E., Wang Q., and Towbin J.A. Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome. Circulation 99 (1999) 1344-1347
3. + channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. EMBO J. 16 (1997) 5472-5479
4. Donger C., Denjoy I., Berthet M., Neyroud N., Cruaud C., Bennaceur M., Chivoret G., Schwartz K., Coumel P., and Guicheney P. KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. Circulation 96 (1997) 2778-2781
5. Ks associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Circulation 97 (1998) 142-146
6. Jervell A., and Lange-Nielsen F. Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death. Am. Heart J. 54 (1957) 59-68
7. Knipper M., Claussen C., Rüttiger L., Zimmermann U., Lüllmann-Rauch R., Eskelinen E.L., Schröder J., Schwake M., and Saftig P. Deafness in LIMP2-deficient mice due to early loss of the potassium channel KCNQ1/KCNE1 in marginal cells of the stria vascularis. J. Physiol. 576 (2006) 73-86
8. Larsen L.A., Fosdal I., Andersen P.S., Kanters J.K., Vuust J., Wettrell G., and Christiansen M. Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. Eur. J. Hum. Genet. 7 (1999) 724-728
9. Mohammad-Panah R., Demolombe S., Neyroud N., Guicheney P., Kyndt F., van den Hoff M., Baró I., and Escande D. Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias. Am. J. Hum. Genet. 64 (1999) 1015-1023
10. Neyroud N., Tesson F., Denjoy I., Leibovici M., Donger C., Barhanin J., Fauré S., Gary F., Coumel P., Petit C., Schwartz K., and Guicheney P. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat. Genet. 1997 15 (1997) 186-189
11. Novotny T., Kadlecova J., Janousek J., Gaillyova R., Bittnerova A., Florianova A., Sisakova M., Toman O., Chroust K., Papousek I., and Spinar J. The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome. Pacing Clin. Electrophysiol. 29 (2006) 1013-1015
12. Priori S.G., Schwartz P.J., Napolitano C., Bianchi L., Dennis A., DeFusco M., Brown A.M., and Casari G. A recessive variant of the Romano-Ward long-QT syndrome?. Circulation 97 (1998) 2420-2425
13. Roden D.M. Clinical practice-Long-QT syndrome. N. Engl. J. Med. 358 (2008) 169-176
14. Sanguinetti M.C., Curran M.E., Zou A., Shen J., Spector P.S., Atkinson D.L., and Keating M.T. Coassembly of K(v)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel. Nature 384 (1996) 80-83
15. Schulze-Bahr E., Wang Q., Wedekind H., Haverkamp W., Chen Q., Sun Y., Rubie C., Hordt M., Towbin J.A., Borggrefe M., Assmann G., Qu X., Somberg J.C., Breithardt G., Oberti C., and Funke H. KCNE1 mutations cause Jervell and Lange-Nielsen syndrome. (Letter) Nat. Genet. 17 (1997) 267-268
16. Splawski I., Tristani-Firouzi M., Lehmann M.H., Sanguinetti M.C., and Keating M.T. Mutations in the hminK gene cause long QT syndrome and suppress I(Ks) function. Nat. Genet. 17 (1997) 338-340
17. Tsuji K., Akao M., Ishii T.M., Ohno S., Makiyama T., Takenaka K., Doi T., Haruna Y., Yoshida H., Nakashima T., Kita T., and Horie M. Mechanistic basis for the pathogenesis of long QT syndrome associated with a common splicing mutation in KCNQ1 gene. J. Mol. Cell. Cardiol. 42 (2007) 662-669
18. Wang Q., Curran M.E., Splawski I., Burn T.C., Millholland J.M., VanRaay T.J., Shen J., Timothy K.W., Vincent G.M., de Jager T., Schwartz P.J., Toubin J.A., Moss A.J., Atkinson D.L., Landes G.M., Connors T.D., and Keating M.T. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat. Genet. 12 (1996) 17-23
19. Wang Z., Li H., Moss A.J., Robinson J., Zareba W., Knilans T., Bowles N.E., and Towbin J.A. Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome. Mol. Genet. Metab. 75 (2002) 308-316
20. + cycling and its regulation in the Cochlea and the Vestibular Labyrinth. Audiol. Neurootol. 7 (2002) 199-205
21. + cycling and the endocochlear potential. Hearing Research 165 (2002) 1-9
22. Wei J., Fish F.A., Myerburg R.J., Roden D.M., and George Jr. A.L. Novel KCNQ1 mutations associated with recessive and dominant congenital long QT syndromes: evidence for variable hearing phenotype associated with R518X. Hum. Mutat 15 (2000) 387-388
23. Wilde A.A., and Escande D. LQT genotype-phenotype relationships: patients and patches. Cardiovasc. Res. 51 (2001) 627-629
24. + channel mutations found in inherited cardiac arrhythmias. Hum. Mol. Genet. 6 (1997) 1943-1949
25. Zehelein J., Kathoefer S., Khalil M., Alter M., Thomas D., Brockmeier K., Ulmer H.E., Katus H.A., and Koenen M. Skipping of Exon 1 in the KCNQ1 gene causes Jervell and Lange-Nielsen syndrome. J. Biol. Chem. 281 (2006) 35397-35403
26. Zhou Z., Gong Q., Ye B., Fan Z., Makielski J.C., Robertson G.A., and January C.T. Properties of HERG channels stably expressed in HEK 293 cells studied at physiological temperature. Biophys. J. 74 (1998) 230-241