Additional heterozygous 2507A>C mutation of WFS1 in progressive hearing loss at lower frequencies

Laryngoscope

Volumn 120, Issue 1, 2010, Pages 166-171

  Fujikawa, Taro ^a   Noguchi, Yoshihiro ^a   Ito, Taku ^a   Takahashi, Masatoki ^a   Kitamura, Ken ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

DFNA6 14 38; Electrocochleography; Hereditary hearing loss; Low frequency; Mid frequency; Nonsyndromic; Wolfram syndrome type 1 gene

Indexed keywords

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUDIOLOGY; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; DISTORTION PRODUCT OTOACOUSTIC EMISSION; DNA POLYMORPHISM; ELECTROCOCHLEOGRAPHY; ELECTRONYSTAGMOGRAPHY; EVOKED BRAIN STEM AUDITORY RESPONSE; EXON; FEMALE; GENE; GENE SEGREGATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC IDENTIFICATION; GJB 2 GENE; HEARING LOSS; HETEROZYGOTE; HUMAN; JAPANESE; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPEECH AUDIOMETRY; TECTA GENE; VESTIBULAR FUNCTION; WFS 1 GENE; ADOLESCENT; DISEASE COURSE; DOMINANT GENE; EVOKED RESPONSE AUDIOMETRY; GENETICS; INFANT; MIDDLE AGED; MUTATION; NEWBORN; PRESCHOOL CHILD; WOLFRAM SYNDROME;

ADOLESCENT; ADULT; AGED; AUDIOMETRY, EVOKED RESPONSE; AUDIOMETRY, SPEECH; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; ELECTRONYSTAGMOGRAPHY; EVOKED POTENTIALS, AUDITORY, BRAIN STEM; FEMALE; GENES, DOMINANT; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MUTATION; WOLFRAM SYNDROME;

EID: 74049098405     PISSN: 0023852X     EISSN: None     Source Type: Journal    
DOI: 10.1002/lary.20691     Document Type: Article

References (26)

1. Cryns K, Sivakumaran TA, Van den Ouweland JM, et al. Mutational spectrum of the WFS1 gene in Wolfram syndrome, non-syndromic hearing impairment, diabetes mellitus, and psychiatric disease. Hum Mutat 2003;22:275-287.
2. Bespalova IN, Van Camp G, Bom SJ, et al. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Hum Mol Genet 2001;10:2501-2508.
3. Cryns K, Thys S, Van Laer L, et al. The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells. Histochem Cell Biol 2003;119:247-256.
4. Noguchi Y, Nishida H, Tokano H, Kawashima Y, Kitamura K. Comparison of acute low-tone sensorineural hearing loss versus Meniere's disease by electrocochleography. Ann Otol Rhinol Laryngol 2004;113:194-199.
5. Noguchi Y, Yashima T, Ito T, Sumi T, Tsuzuku T, Kitamura K. Audiovestibular findings in patients with mitochondrial A1555G mutation. Laryngoscope 2004;114:344-348.
6. Moreno-Pelayo MA, del Castillo I, Villamar M, et al. A cysteine substitution in the zona pellucida domain of alphatectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family. J Med Genet 2001;38:E13.
7. Noguchi Y, Yashima T, Hatanaka A, et al. A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss. Acta Otolaryngol 2005;125:1189-1194.
8. Komatsu K, Nakamura N, Ghadami M, et al. Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family. J Hum Genet 2002;47:395-399.
9. Tsai HT, Wang YP, Chung SF, Lin HC, Ho GM, Shu MT. A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment. BMC Med Genet 2007;8:26.
10. Pennings RJ, Bom SJ, Cryns K, et al. Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1). Arch Otolaryngol Head Neck Surg 2003;129:421-426.
11. Bramhall NF, Kallman JC, Verrall AM, Street VA. A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings. BMC Med Genet 2008;9:48.
12. Toth T, Pfister M, Zenner HP, Sziklai I. Phenotypic characterization of a DFNA6 family showing progressive low-frequency sensorineural hearing impairment. Int J Pediatr Otorhinolaryngol 2006;70:201-206.
13. Brodwolf S, Boddeker IR, Ziegler A, Rausch P, Kunz J. Further evidence for linkage of low-mid frequency hearing impairment to the candidate region on chromosome 4p16.3. Clin Genet 2001;60:155-160.
14. Bom SJ, Van Camp G, Cryns K, Admiraal RJ, Huygen PL, Cremers CW. Autosomal dominant low-frequency hearing impairment (DFNA6/14): a clinical and genetic family study. Otol Neurotol 2002;23:876-884.
15. Lesperance MM, Hall JW III, San Agustin TB, Leal SM. Mutations in the Wolfram syndrome type 1 gene (WFS1) define a clinical entity of dominant low-frequency sensorineural hearing loss. Arch Otolaryngol Head Neck Surg 2003;129:411-420.
16. Young TL, Ives E, Lynch E, et al. Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. Hum Mol Genet 2001;10:2509-2514.
17. Gurtler N, Kim Y, Mhatre A, et al. Two families with nonsyndromic low-frequency hearing loss harbor novel mutations in Wolfram syndrome gene 1. J Mol Med 2005;83:553-560.
18. Lesperance MM, Hall JW III, Bess FH, et al. A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3. Hum Mol Genet 1995;4:1967-1972.
19. Cryns K, Pfister M, Pennings RJ, et al. Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. Hum Genet 2002;110:389-394.
20. Hildebrand MS, Sorensen JL, Jensen M, Kimberling WJ, Smith RJ. Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1. Am J Med Genet A 2008;146A:2258-2265.
21. Fukuoka H, Kanda Y, Ohta S, Usami S. Mutations in the WFS1 gene are a frequent cause of autosomal dominant non-syndromic low-frequency hearing loss in Japanese. J Hum Genet 2007;52:510-515.
22. Eiberg H, Hansen L, Kjer B, et al. Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. J Med Genet 2006;43:435-440.
23. Kawamoto T, Horikawa Y, Tanaka T, Kabe N, Takeda J, Mikuni M. Genetic variations in the WFS1 gene in Japanese with type 2 diabetes and bipolar disorder. Mol Genet Metab 2004;82:238-245.
24. Geering K. Subunit assembly and functional maturation of Na,K-ATPase. J Membr Biol 1990;115:109-121.
25. Zatyka M, Ricketts C, da Silva Xavier G, et al. Sodium-potassium ATPase 1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress. Hum Mol Genet 2008;17:190-200.
26. Yu SP. Na(+), K(+)-ATPase: the new face of an old player in pathogenesis and apoptotic/hybrid cell death. Biochem Pharmacol 2003;66:1601-1609.