Sensorineural hearing loss caused by mutations in two alleles of both GJB2 and SLC26A4 genes

International Journal of Pediatric Otorhinolaryngology

Volumn 77, Issue 3, 2013, Pages 379-383

  Huang, Shasha ^a,b   Han, Dongyi ^a   Wang, Guojian ^a,b   Yuan, Yongyi ^a,b   Song, Yueshuai ^a,b   Han, Mingyu ^a,b   Chen, Zhengyi ^c   Dai, Pu ^a,b  

^a CHINESE PLA GENERAL HOSPITAL   (China)

^b Hainan Branch of PLA General Hospital   (China)

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

Autosomal recessive; Different genes; Double allele mutations; Sensorineural hearing loss

Indexed keywords

CONNEXIN 26; PENDRIN;

ARTICLE; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; DISEASE SEVERITY; ENLARGED VESTIBULAR AQUEDUCT SYNDROME; GENE MUTATION; GJB2 GENE; GOITER; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; MALE; OTOSCOPY; PERCEPTION DEAFNESS; PHYSICAL EXAMINATION; PRELINGUAL HEARING IMPAIRMENT; PRIORITY JOURNAL; PURE TONE AUDIOMETRY; SCHOOL CHILD; SLC26A4 GENE; TYMPANOMETRY;

ALLELES; CHILD; CONNEXINS; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; VESTIBULAR AQUEDUCT;

EID: 84873524824     PISSN: 01655876     EISSN: 18728464     Source Type: Journal    
DOI: 10.1016/j.ijporl.2012.11.031     Document Type: Article

References (26)

1. Downs M.P. Universal newborn hearing screening - the Colorado story. Int. J. Pediatr. Otorhinolaryngol. 1995, 32(3):257-259.
2. Mehl A.L., Thomson V. Newborn hearing screening: the great omission. Pediatrics 1998, 101(1):E4.
3. Mehl A.L., Thomson V. The Colorado newborn hearing screening project, 1992-1999: on the threshold of effective population-based universal newborn hearing screening. Pediatrics 2002, 109(1):E7.
4. Estivill X., Fortina P., Surrey S., Rabionet R., Melchionda S., D'Agruma L., et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998, 351(9100):394-398.
5. Gabriel H., Kupsch P., Sudendey J., Winterhager E., Jahnke K., Lautermann J. Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population. Hum. Mutat. 2001, 17(6):521-522.
6. Yuan Y., You Y., Huang D., Cui J., Wang Y., Wang Q., et al. Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China. J. Transl. Med. 2009, 7:79.
7. Dai P., Yu F., Han B., Liu X., Wang G., Li Q., et al. GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment. J. Transl. Med. 2009, 7:26.
8. Smith R.J., Robin N.H. Genetic testing for deafness - GJB2 and SLC26A4 as causes of deafness. J. Commun. Disord. 2002, 35(4):367-377.
9. Hone S.W., Smith R.J. Genetic screening for hearing loss. Clin Otolaryngol Allied Sci. 2003, 28(4):285-290.
10. Dai P., Yuan Y., Huang D., Zhu X., Yu F., Kang D., et al. Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis. J. Transl. Med. 2008, 6:74.
11. Zhu Y., Li Q., Chen Z., Kun Y., Liu L., Liu X., et al. Mitochondrial haplotype and phenotype of 13 Chinese families may suggest multi-original evolution of mitochondrial C1494T mutation. Mitochondrion 2009, 9(6):418-428.
12. Kupka S., Bodden-Kamps B., Baur M., Zenner H.P., Pfister M. Mitochondrial A1555G mutation. Molecular genetic diagnosis in sporadic cases of non-syndromic hearing impairment. HNO 2004, 52(11):968-972.
13. Yuan Y., Yu F., Wang G., Huang S., Yu R., Zhang X., et al. Prevalence of the GJB2 IVS1+1G>A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2. J Transl Med. 2010, 8:127.
14. Wang Q.J., Zhao Y.L., Rao S.Q., Guo Y.F., Yuan H., Zong L., et al. A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. Clin. Genet. 2007, 72(3):245-254.
15. Choi B.Y., Stewart A.K., Madeo A.C., Pryor S.P., Lenhard S., Kittles R., et al. Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?. Hum. Mutat. 2009, 30(4):599-608.
16. Zheng Q.Y., Yan D., Ouyang X.M., Du L.L., Yu H., Chang B., et al. Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. Hum. Mol. Genet. 2005, 14(January (1)):103-111.
17. Minami S.B., Masuda S., Usui S., Mutai H., Matsunaga T. Comorbidity of GJB2 and WFS1 mutations in one family. Gene 2012, 501(June (2)):193-197.
18. Bogazzi F., Russo D., Raggi F., Ultimieri F., Berrettini S., Forli F., et al. Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct. J. Endocrinol. Invest. 2004, 27(5):430-435.
19. Kitamura K., Takahashi K., Noguchi Y., Kuroishikawa Y., Tamagawa Y., Ishikawa K., Ichimura K., et al. Mutations of the Pendred syndrome gene (PDS) in patients with large vestibular aqueduct. Acta Otolaryngol. 2000, 120(2):137-141.
20. Lai C.C., Chiu C.Y., Shiao A.S., Tso Y.C., Wu Y.C., Tu T.Y., et al. Analysis of the SLC26A4 gene in patients with Pendred syndrome in Taiwan. Metabolism 2007, 56(9):1279-1284.
21. Liu X.Z., Xia X.J., Ke X.M., Ouyang X.M., Du L.L., Liu Y.H., et al. The prevalence of connexin 26 (GJB2) mutations in the Chinese population. Hum. Genet. 2002, 111(4-5):394-397.
22. Bayazit Y.A., Cable B.B., Cataloluk O., Kara C., Chamberlin P., Smith R.J., et al. GJB2 gene mutations causing familial hereditary deafness in Turkey. Int. J. Pediatr. Otorhinolaryngol. 2003, 67(12):1331-1335.
23. Han S.H., Park H.J., Kang E.J., Ryu J.S., Lee A., Yang Y.H., et al. Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population. J. Hum. Genet. 2008, 53(11-12):1022-1028.
24. Ohtsuka A., Yuge I., Kimura S., Namba A., Abe S., Van Laer L., et al. GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. Hum. Genet. 2003, 112(4):329-333.
25. Lee K.Y., Choi S.Y., Bae J.W., Kim S., Chung K.W., Drayna D., et al. Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients. Int. J. Pediatr. Otorhinolaryngol. 2008, 72(9):1301-1309.
26. Choi S.Y., Park H.J., Lee K.Y., Dinh E.H., Chang Q., Ahmad S., et al. Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. Hum. Mutat. 2009, 30(7):E716-E727.