Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China

Yi Sun, Jing Chen, Hanjun Sun, Jing Cheng, Jianzhong Li, Yu Lu, Yanping Lu, Zhanguo Jin, Yuhua Zhu, Xiaomei Ouyang, Denise Yan, Pu Dai, Dongyi Han, Weiyan Yang, Rongguang Wang, Xuezhong Liu, Huijun Yuan

Research output: Contribution to journalArticle

16 Scopus citations

Abstract

The myosin VIIA (MYO7A) gene encodes a protein classified as an unconventional myosin. Mutations within MYO7A can lead to both syndromic and non-syndromic hearing impairment in humans. Among different mutations reported in MYO7A, only five led to non-syndromic sensorineural deafness autosomal dominant type 11 (DFNA11). Here, we present the clinical, genetic and molecular characteristics of two large Chinese DFNA11 families with either high- or low-frequency hearing loss. Affected individuals of family DX-J033 have a sloping audiogram at young ages with high frequency are most affected. With increasing age, all test frequencies are affected. Affected members of family HB-S037 present with an ascending audiogram affecting low frequencies at young ages, and then all frequencies are involved with increasing age. Genome-wide linkage analysis mapped the disease loci within the DFNA11 interval in both families. DNA sequencing of MYO7A revealed two novel nucleotide variations, c.652G > A (p.D218N) and c.2011G > A (p.G671S), in the two families. It is for the first time that the mutations identified in MYO7A in the present study are being implicated in DFNA11 in a Chinese population. For the first time, we tested electrocochleography (ECochG) in a DFNA11 family with low-frequency hearing loss. We speculate that the low-frequency sensorineural hearing loss in this DFNA11 family was not associated with endolymphatic hydrops.

Original languageEnglish (US)
Pages (from-to)64-70
Number of pages7
JournalJournal of Human Genetics
Volume56
Issue number1
DOIs
StatePublished - Jan 1 2011

Keywords

  • deafness
  • DFNA11
  • linkage analysis
  • mutation
  • MYO7A

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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    Sun, Y., Chen, J., Sun, H., Cheng, J., Li, J., Lu, Y., Lu, Y., Jin, Z., Zhu, Y., Ouyang, X., Yan, D., Dai, P., Han, D., Yang, W., Wang, R., Liu, X., & Yuan, H. (2011). Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China. Journal of Human Genetics, 56(1), 64-70. https://doi.org/10.1038/jhg.2010.147