Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss

Human Mutation

Volumn 14, Issue 6, 1999, Pages 493-501

  Talebizadeh, Zohreh ^a   Kelley, Philip M ^a   Askew, James W ^a   Beisel, Kirk W ^a   Smith, Shelley D ^b  

^a BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

^b UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

Author keywords

DFNA2; GJB3; Hearing loss; Hydrophobicity analysis; KCNQ4; Mutation detection; Phenotypic heterogeneity; Potassium channel

Indexed keywords

AMINO ACID; DNA; POTASSIUM CHANNEL; PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME 1P; GENE; GENE MUTATION; GENOTYPE; HEARING LOSS; HUMAN; HYDROPHOBICITY; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 1; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; HEARING LOSS, SENSORINEURAL; HUMANS; KCNQ POTASSIUM CHANNELS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POINT MUTATION; POLYMORPHISM, GENETIC; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED; PROTEIN STRUCTURE, SECONDARY; SEQUENCE HOMOLOGY, AMINO ACID; VARIATION (GENETICS);

EID: 0032794410     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(199912)14:6<493::AID-HUMU8>3.0.CO;2-P     Document Type: Article

References (38)

1. Abe S, Usami S, Shinkawa H, Kelley PM, Kimberling WJ. 1999. Connexin 26 mutations are aggravating factors in phenotypic expression in the non-syndromic deafness associated with the A1555G mitochondrial mutation. ARO meeting, Abstract #42.
2. Catterall WA. 1988. Structure and function of voltage-sensitive ion channels. Science 242:50-61.
3. Charlier C, Singh NA, Ryan SG, Lewis TB, Reus BE, Leach RJ, Leppert M. 1998. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet 18:53-55
4. Coucke PJ, Van Camp G, Djoyodiharjo B, Smith SD, Frants RR, Padberg GW, Darby JK, Huizing EH, Cremers CW, Kimberling WJ, Oostra BA, Van De Heyning PH, Willems PJ. 1994. Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families. N Engl J Med 331:425-431.
5. Coucke PJ, Van Hauwe P, Kelley PM, Kunst H, Schatteman I, Van Velzen D, Meyers J, Ensink RJ, Verstreken M, Declau F, Marres H, Kastury K, Bhasin S, McGuirt WT, Smith RJH, Cremers CWRJ, Van de Heyning P Willems PJ, Smith SD, Van Camp G. 1999. Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. Hum Mol Gent 8:1321-1328.
6. + conduction and selectivity. Science 280:69-77.
7. Eatock RA, Rüsch A. 1997. Developmental changes in the physiology of hair cells. Semin Cell Dev Biol 8:265-275.
8. Fischel-Ghodsian N. 1999. Mitochondrial deafness mutations reviewed. Hum Mutat 13:261-270.
9. Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ. 1998. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 62:792-799.
10. Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM. 1997. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 387:80-83.
11. Kros CJ, Ruppersberg JP, Rüsch A. 1998. Expression of a potassium current in inner hair cells during development of hearing in mice. Nature 394:281-284.
12. Kruglyak L. 1997. The use of a genetic map of biallelic markers in linkage studies. Nat Genet 17:21-24.
13. Kubisch C, Schroeder BC, Friedrich T, Lutjohann B, El-Amraouni A, Marlin S, Petit C, Jentsch TJ. 1999. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell 96:437-446.
14. Lathrop GM, Lalouel JM, Julier C, Ott J. 1984. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 3443-3446.
15. Lewis AK, Frantz GD, Carpenter DA, de Sauvage FJ, Gao WQ. 1998. Distinct expression patterns of notch family receptors and ligands during development of the mammalian inner ear. Mech Dev 78:159-163.
16. Lin X. 1997. Action potentials and underlying voltage-dependent currents studied in cultured spiral ganglion neurons of the postnatal gerbil. Hear Res 108:157-179.
17. Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJ, Steel KP, Brown SD. 1997. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet 16:188-190.
18. Lynch ED, Lee MK, Morrow JE, Welsch PL, Leon PE, King MC. 1997. Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. Science 278:1315-1318.
19. Mammano F, Kros CJ, Ashmore JF. 1995. Patch clamped responses from outer hair cells in the intact adult organ of Corti. Pflugers Arch 430:745-750.
20. Moore EJ, Hall DB, Narahashi T. 1996. Sodium and potassium currents of type I spiral ganglion cells from rat. Acta Otolaryngol (Stockh) 116:552-560.
21. Nakamura M, Watanabe H, Kubo Y, Yokoyama M, Matsumoto T, Sasai H, Nishi Y. 1998. KQT2, a new putative potassium channel family produced by alternative splicing. Isolation, genomic structure, and alternative splicing of the putative potassium channels. Receptors Channels 5:255-271.
22. Neyroud N, Tesson F, Denjoy I, Leibovici M, Donger C, Barhanin J, Faure S, Gary F, Coumel P, Petit C, Schwartz K, Guicheney P. 1997. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet 15:186-189.
23. Robertson NG, Lu L, Heller S, Merchant SN, Eavey RD, McKenna M, Nadol JB, Miyamoto RT, Linthicum FH, Lubianca Neto JF, Hudspeth AJ, Seidman CE, Morton CC, Seidman JG. 1998. Mutations in a novel cochlear gene COCH5B2 cause DFNA9, a human nonsyndromic sensorineural deafness with vestibular dysfunction. Nat Genet 20:299-303.
24. Safieddine S, Wenthold RJ. 1997. The glutamate receptor subunit delta1 is highly expressed in hair cells of the auditory and vestibular systems. J Neurosci 17:7523-7531.
25. Sanguinetti MC, Curran ME, Zou A, Shen J, Spector PS, Atkinson DL, Keating MT. 1996. Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac IKs potassium channel. Nature 384:80-83.
26. Santos-Sacchi J. 1993. Voltage-dependent ionic conductances of type I spiral ganglion cells from the guinea pig inner ear. J Neurosci 13:3599-3611.
27. Shen Z, Marcus DC. 1998. Divalent cations inhibit IsK/KvLQT1 channels in excised membrane patches of strial marginal cells. Hear Res 123:157-167.
28. Singh NA, Charlier C, Stauffer D, DuPont BR, Leach RJ, Melis R, Ronen GM, Bjerre I, Quattlebaum T, Murphy JV, McHarg ML, Gagnon D, Rosales TO, Peiffer A, Anderson VE, Leppert M. 1998. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 18:25-29.
29. Stevens CF. 1991. Ion channels: making a submicroscopic hole in one. Nature 349:657-658.
30. Sunose H, Ikeda K, Suzuki M, Takasaka T. 1994. Voltage-activated K channel in luminal membrane of marginal cells of stria vascularis dissected from guinea pig. Hear Res 80:86-92.
31. Tyson J, Tranebjaerg L, Bellman S, Wren C, Taylor JFN, Bathen J, Aslaksen B, Sorland SJ, Lund O, Malcolm S, Pembrey M, Bhattacharya S, Bitner-Glindzicz M. 1997. Isk and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervel and Lange-Nielsen syndrome. Hum Mol Genet 61:2179-2185.
32. Vahava O, Morell R, Lynch ED, Weiss S, Kagan ME, Ahituv N, Morrow JE, Lee MK, Skvorak AB, Morton CC, Blumenfeld A, Frydman M, Friedman TB, King MC, Avraham KB. 1998. Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science 279: 1950-1954.
33. Van Camp G, Coucke PJ, Kunst H, Schatteman I, Van Velzen D, Marres H, Van Ewijk M, Declau F, Van Hauwe P, Meyers J, Kenyon J, Smith SD, Smith RJH, Djelantik B, Cremers CWRJ, Van de Heyning PH, Willems PJ. 1997a. Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p. Genomics 41:70-74.
34. Van Camp G, Willems PJ, Smith RJH. 1997b. Nonsyndromic hearing impairment: unparalleled heterogeneity. An; J Hum Genet 60:758-764.
35. Van Lear L, Huizing EH, Verstreken M, Van Zuylen D, Wauters JG, Bossuyt PJ, Van de Heyning P, McGuirt W, Smith RJH, Willems PJ, Legan PK, Richardson GP, Van Camp G. 1998. Nonsyndromic hearing impairment is associated with a mutation in DFNA5. Nat Genet 20:194-197.
36. Verhoeven K, Van Laer L, Kirschhofer K, Legan PK, Hughes DC, Schatteman I, Verstreken M, Van Hauwe P, Coucke P, Chen A, Smith RJ, Somers T, Offeciers FH, Van de Heyning P, Richardson GP, Wachtler F, Kimberling WJ, Willems PJ, Govaerts PJ, Van Camp G. 1998. Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nat Genet 19:60-62.
37. Wangemann P, Liu J, Marcus DC. 1995. Ion transport mechanisms responsible for K+ secretion and the transepithelial voltage across marginal cells of stria vascularis in vitro. Hear Res 84:19-29.
38. Xia JH, Liu CY, Tang BS, Pan Q, Huang L, Dai HP, Zhang BR, Xie W, Hu DX, Zheng D, Shi XL, Wang DA, Xia K, Yu KP, Liao XD, Feng Y, Yang YF, Xiao JY, Xie DH, Huang JZ. 1998. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant impairment. Nat Genet 20:370-373.