Genetic analysis of auditory neuropathy spectrum disorder in the Korean population

Gene

Volumn 522, Issue 1, 2013, Pages 65-69

  Bae, Seung Hyun ^a   Baek, Jeong In ^a   Lee, Jong Dae ^b   Song, Mee Hyun ^c   Kwon, Tae Jun ^a   Oh, Se Kyung ^a   Jeong, Ji Yun ^e   Choi, Jae Young ^d   Lee, Kyu Yup ^f   Kim, Un Kyung ^a  

^a Kyungpook National University   (South Korea)

^b Soonchunhyang University College of Medicine   (South Korea)

^c Kwandong University College of Medicine   (South Korea)

^d Yonsei University College of Medicine   (South Korea)

^e Kyungpook National University Hospital   (South Korea)

^f Kyungpook National University School of Medicine   (South Korea)

Author keywords

Auditory neuropathy; DIAPH3; Korea; Mutation; OTOF; PJVK

Indexed keywords

ARTICLE; AUDITORY NEUROPATHY SPECTRUM DISORDER; CLINICAL ARTICLE; GENE IDENTIFICATION; GENE SEGREGATION; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOTE; HUMAN; KOREA; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; VESTIBULOCOCHLEAR NERVE DISEASE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; CODON, NONSENSE; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HEARING DISORDERS; HEARING LOSS, CENTRAL; HETEROZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PEDIGREE; REPUBLIC OF KOREA;

EID: 84876965785     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.02.057     Document Type: Article

References (27)

1. Berlin C.I., Hood L., Morlet T., Rose K., Brashears S. Auditory neuropathy/dys-synchrony: diagnosis and management. Ment. Retard. Dev. Disabil. Res. Rev. 2003, 9:225-231.
2. Chaib H., et al. A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23. Hum. Mol. Genet. 1996, 5:155-158.
3. Chiu Y.H., et al. Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy. Audiol. Neurootol. 2010, 15:364-374.
4. Del Castillo F.J., Del Castillo I. Genetics of isolated auditory neuropathies. Front. Biosci. 2012, 17:1251-1265.
5. Delmaghani S., et al. Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. Nat. Genet. 2006, 38:770-778.
6. Goode B.L., Eck M.J. Mechanism and function of formins in the control of actin assembly. Annu. Rev. Biochem. 2007, 76:593-627.
7. Hashemzadeh Chaleshtori M., et al. Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families. Clin. Genet. 2007, 72:261-263.
8. Houseman M.J., Jackson A.P., Al-Gazali L.I., Badin R.A., Roberts E., Mueller R.F. A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised OTOF long isoforms. J. Med. Genet. 2001, 38:E25.
9. Kim T.B., Isaacson B., Sivakumaran T.A., Starr A., Keats B.J., Lesperance M.M. A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21. J. Med. Genet. 2004, 41:872-876.
10. Manchaiah V.K., Zhao F., Danesh A.A., Duprey R. The genetic basis of auditory neuropathy spectrum disorder (ANSD). Int. J. Pediatr. Otorhinolaryngol. 2011, 75:151-158.
11. Matsunaga T., et al. A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy. Clin. Genet. 2012, 82:425-432.
12. Migliosi V., et al. Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss. J. Med. Genet. 2002, 39:502-506.
13. Rodriguez-Ballesteros M., et al. Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF). Hum. Mutat. 2003, 22:451-456.
14. Rodriguez-Ballesteros M., et al. A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy. Hum. Mutat. 2008, 29:823-831.
15. Romanos J., et al. Novel OTOF mutations in Brazilian patients with auditory neuropathy. J. Hum. Genet. 2009, 54:382-385.
16. Roux I., et al. Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. Cell 2006, 127:277-289.
17. Santarelli R., Cama E., Scimemi P., Dal Monte E., Genovese E., Arslan E. Audiological and electrocochleography findings in hearing-impaired children with connexin 26 mutations and otoacoustic emissions. Eur. Arch. Otorhinolaryngol. 2008, 265:43-51.
18. Schoen C.J., et al. Increased activity of diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila. Proc. Natl. Acad. Sci. U.S.A. 2010, 107:13396-13401.
19. Schwander M., et al. A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. J. Neurosci. 2007, 27:2163-2175.
20. Starr A., Picton T.W., Sininger Y., Hood L.J., Berlin C.I. Auditory neuropathy. Brain 1996, 119(Pt 3):741-753.
21. Starr A., Sininger Y.S., Pratt H. The varieties of auditory neuropathy. J. Basic Clin. Physiol. Pharmacol. 2000, 11:215-230.
22. Varga R., et al. Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene. J. Med. Genet. 2003, 40:45-50.
23. Varga R., et al. OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele. J. Med. Genet. 2006, 43:576-581.
24. Wang Q., et al. Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation. Am. J. Med. Genet. A 2005, 133A:27-30.
25. Wang D.Y., et al. Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy. BMC Med. Genet. 2010, 11:79.
26. Wang J., Fan Y.Y., Wang S.J., Liang P.F., Wang J.L., Qiu J.H. Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder. PLoS One 2011, 6:e24000.
27. Yasunaga S., et al. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat. Genet. 1999, 21:363-369.