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Acta Oto-Laryngologica Volume 142, 2022 - Issue 1
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Audiology

Molecular screening of patients with profound hearing loss from Chengdu, China

Qingqing Daia Department of Otolaryngology, West China Hospital, Sichuan University, Chengdu, China;b Department of Otolaryngology Head and Neck & Audiology and Neurotology, Department of Clinical Science, Intervention and Technology, Karolinska University Hospital, Karolinska Institute, Stockholm, SwedenORCID Iconhttps://orcid.org/0000-0003-3064-8310View further author information
ORCID Icon,
Wei Daia Department of Otolaryngology, West China Hospital, Sichuan University, Chengdu, ChinaView further author information
,
Dan Wanga Department of Otolaryngology, West China Hospital, Sichuan University, Chengdu, ChinaView further author information
,
Xia Liuc Sichuan Hearing and Language Rehabilitation Center, Chengdu, ChinaView further author information
,
Ling Zoud Chengdu Women’s and Children’s Central Hospital, Chengdu, ChinaView further author information
,
Jiani Chena Department of Otolaryngology, West China Hospital, Sichuan University, Chengdu, ChinaView further author information
,
Hong Zhenga Department of Otolaryngology, West China Hospital, Sichuan University, Chengdu, ChinaCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-0199-2940View further author information
ORCID Icon &
Maoli Duanb Department of Otolaryngology Head and Neck & Audiology and Neurotology, Department of Clinical Science, Intervention and Technology, Karolinska University Hospital, Karolinska Institute, Stockholm, SwedenORCID Iconhttps://orcid.org/0000-0002-7856-9438View further author information
ORCID Icon show all
Pages 57-60 | Received 27 Sep 2021, Accepted 27 Oct 2021, Published online: 22 Dec 2021

References

  • Morton NE. Genetic epidemiology of hearing impairment. Ann NY Acad Sci. 1991;630:16–31.
  • Friedman TB, Schultz JM, Ben-Yosef T, et al. Recent advances in the understanding of syndromic forms of hearing loss. Ear Hear. 2003;24(4):289–302.
  • Epstein FH, Willems PJ. Genetic causes of hearing loss. N Engl J Med. 2000;342(15):1101–1109.
  • Lalwani A, Castelein CM. Cracking the auditory genetic code: non-syndromic hereditary hearing impairment. Am J Otol. 1999;20:115–132.
  • Yang W. Summarized Research Progress of Hereditary Deafness and Clinical Application of Genetic Diagnosis of Deafness. Paper presented at the Ninth National Conference on Otolaryngology (Sep. 2006, Guiyang), Head and Neck Surgery of the Chinese Medical Association; 2007.
  • Dai P, Yu F, Han B, et al. GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment. J Transl Med. 2009;7:26.
  • Royaux IE, Suzuki K, Mori A, et al. Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells. Endocrinology. 2000;141(2):839–845.
  • Yuan Y, You Y, Huang D, et al. Comprehensive molecular etiology analysis of non-syndromic hearing impairment from typical areas in China. J Transl Med. 2009;7(1):1–12.
  • Dai P, Li Q, Huang D, et al. SLC26A4 c.919-2A > G varies among Chinese ethnic groups as a cause of hearing loss. Genet Med. 2008;10(8):586–592.
  • Dai P, Liu X, Han D, et al. Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness. Biochem Biophys Res Commun. 2006;340(1):194–199.
  • Li CX, Pan Q, Guo YG, et al. Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening. Hum Mutat. 2008;29(2):306–314.
  • Chen K, Zheng X. Data analysis report of the second national sample survey of disabled people. Beijing (China): HuaXia Publishing House (Beijing); 2008.
  • Ji YB, Han DY, Lan L, et al. Molecular epidemiological analysis of mitochondrial DNA12SrRNA A1555G, GJB2, and SLC26A4 mutations in sporadic outpatients with non-syndromic sensorineural hearing loss in China. Acta Oto-Laryngol. 2011;131(2):124–129.
  • Yuan Y, Zhang X, Huang S, et al. Common molecular etiologies are rare in nonsyndromic Tibetan Chinese patients with hearing impairment. PLoS One. 2012;7(2):e30720.
  • Usami S, Abe S, Akita J, et al. Prevalence of mitochondrial gene mutations among hearing impaired patients. J Med Genet. 2000;37(1):38–40.
  • Mkaouar-Rebai E, Tlili A, Masmoudi S, et al. New polymorphic mtDNA restriction site in the 12S rRNA gene detected in Tunisian patients with non-syndromic hearing loss. Biochem Biophys Res Commun. 2008;369(3):849–852.
  • Qu C, Sun X, Shi Y, et al. Microarray-based mutation detection of pediatric sporadic nonsyndromic hearing loss in China. Int J Pediatr Otorhinolaryngol. 2012;76(2):235–239.
  • Malik SG, Pieter N, Sudoyo H, et al. Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia. J Hum Genet. 2003;48(9):480–483.
  • Xin F, Yuan Y, Deng X, et al. Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China. J Transl Med. 2013;11:312.
  • Carlberg B, Asplund K, Hägg E. The clinical and audiologic features of hearing loss due to mitochondrial mutations. Otolaryngol Head Neck Surg. 2013;148:1017–1022.

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