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Acta Oto-Laryngologica Volume 138, 2018 - Issue 5
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Research Article

Identification of a MYO7A mutation in a large Chinese DFNA11 family and genotype–phenotype review for DFNA11

Lina LiDepartment of Otolaryngology-Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China; ;Department of Otolaryngology, The 309th Hospital of Chinese People’s Liberation Army, Beijing, ChinaView further author information
,
Hu YuanDepartment of Otolaryngology-Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China; View further author information
,
Hongyang WangDepartment of Otolaryngology-Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China; View further author information
,
Jing GuanDepartment of Otolaryngology-Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China; View further author information
,
Lan LanDepartment of Otolaryngology-Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China; View further author information
,
Dayong WangDepartment of Otolaryngology-Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China; View further author information
,
Liang ZongDepartment of Otolaryngology-Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China; View further author information
,
Qiong LiuDepartment of Otolaryngology-Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China; View further author information
,
Bing HanDepartment of Otolaryngology-Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China; View further author information
,
Deliang HuangDepartment of Otolaryngology-Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China; Correspondence[email protected]
View further author information
&
Qiuju WangDepartment of Otolaryngology-Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China; Correspondence[email protected]
View further author information
 show all
Pages 463-470 | Received 17 Aug 2017, Accepted 16 Oct 2017, Published online: 05 Feb 2018

References

  • Weil D, Blanchard S, Kaplan J, et al. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature. 1995;374:60–61.
  • Rong W, Chen X, Zhao K, et al. Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2. PLoS One. 2014;9:e97808.
  • Liu XZ, Hope C, Walsh J, et al. Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome. Am J Hum Genet. 1998;63:909–912.
  • Liu XZ, Walsh J, Mburu P, et al. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet. 1997;16:188–190.
  • Liu XZ, Walsh J, Tamagawa Y, et al. Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nat Genet. 1997;17:268–269.
  • Tamagawa Y, Kitamura K, Ishida T, et al. A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. Hum Mol Genet. 1996;5:849–852.
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  • Sun Y, Chen J, Sun H, et al. Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China. J Hum Genet. 2011;56:64–70.
  • Sang Q, Yan X, Wang H, et al. Identification and functional study of a new missense mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). PLoS One. 2013;8:e55178.
  • Yuan H, Han DY, Wang QJ, et al. Gene mapping for autosomal dominant nonsyndromic hearing loss DFNA11. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2007;42:422–427.
  • Ikebe M, Inoue A, Nishikawa S, et al. Motor function of unconventional myosin. Adv Exp Med Biol. 2003;538:143–156.
  • Tamagawa Y, Ishikawa K, Ishikawa K, et al. Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation. Laryngoscope. 2002;112(2):292–297.
  • Bischoff AMLC, Pennings RJE, Huygen PLM, et al. Cochleovestibular and ocular features in a Dutch DFNA11 family. Otol Neurotol. 2006;27(3):323–331.
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