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 language | English |
|---|---|
| Pages (from-to) | 64-70 |
| Number of pages | 7 |
| Journal | Journal of Human Genetics |
| Volume | 56 |
| Issue number | 1 |
| DOIs | |
| State | Published - Jan 1 2011 |
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Keywords
- deafness
- DFNA11
- linkage analysis
- mutation
- MYO7A
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China. / Sun, Yi; Chen, Jing; Sun, Hanjun; Cheng, Jing; Li, Jianzhong; Lu, Yu; Lu, Yanping; Jin, Zhanguo; Zhu, Yuhua; Ouyang, Xiaomei; Yan, Denise; Dai, Pu; Han, Dongyi; Yang, Weiyan; Wang, Rongguang; Liu, Xue Z; Yuan, Huijun.
In: Journal of Human Genetics, Vol. 56, No. 1, 01.01.2011, p. 64-70.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China
AU - Sun, Yi
AU - Chen, Jing
AU - Sun, Hanjun
AU - Cheng, Jing
AU - Li, Jianzhong
AU - Lu, Yu
AU - Lu, Yanping
AU - Jin, Zhanguo
AU - Zhu, Yuhua
AU - Ouyang, Xiaomei
AU - Yan, Denise
AU - Dai, Pu
AU - Han, Dongyi
AU - Yang, Weiyan
AU - Wang, Rongguang
AU - Liu, Xue Z
AU - Yuan, Huijun
PY - 2011/1/1
Y1 - 2011/1/1
N2 - 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.
AB - 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.
KW - deafness
KW - DFNA11
KW - linkage analysis
KW - mutation
KW - MYO7A
UR - http://www.scopus.com/inward/record.url?scp=79251626613&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=79251626613&partnerID=8YFLogxK
U2 - 10.1038/jhg.2010.147
DO - 10.1038/jhg.2010.147
M3 - Article
C2 - 21150918
AN - SCOPUS:79251626613
VL - 56
SP - 64
EP - 70
JO - Journal of Human Genetics
JF - Journal of Human Genetics
SN - 1434-5161
IS - 1
ER -