Abstract
Objective X-linked nonsyndromic hearing impairment is the rarest form of genetic hearing loss and represents only a minor fraction of all cases. The aim of this study was to investigate the cause of X-linked nonsyndromic sensorineural hearing loss in a three-generation American family. Methods Whole-exome sequencing and co-segregation analysis were used to identify disease-causing genes. Results In this study, we described in detail the clinical characteristics of the family and identified a novel frameshift mutation creating a premature stop codon (c.133-1 G > A, p.(Gly45fs*36)) of SMPX. The loss-of-function mutation was co-segregated with the progressive hearing loss phenotype and was absent in 200 normal controls. Conclusions We report the first SMPX (DFNX4) mutation in a North American family. Our findings contribute to the existing genotypic and phenotypic spectrum of SMPX associated hearing loss. Furthermore, our data suggest that exome sequencing is promising in the genetic diagnosis of hearing loss.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 47-50 |
| Number of pages | 4 |
| Journal | International Journal of Pediatric Otorhinolaryngology |
| Volume | 104 |
| DOIs | |
| State | Published - Jan 1 2018 |
Fingerprint
Keywords
- DFNX4
- Exome sequence
- Novel mutation
- SMPX
- X-linked hearing loss
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Otorhinolaryngology
Cite this
A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss. / Niu, Zhijie; Yan, Denise; Bressler, Sara; Mei, Lingyun; Feng, Yong; Liu, Xue Z.
In: International Journal of Pediatric Otorhinolaryngology, Vol. 104, 01.01.2018, p. 47-50.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss
AU - Niu, Zhijie
AU - Yan, Denise
AU - Bressler, Sara
AU - Mei, Lingyun
AU - Feng, Yong
AU - Liu, Xue Z
PY - 2018/1/1
Y1 - 2018/1/1
N2 - Objective X-linked nonsyndromic hearing impairment is the rarest form of genetic hearing loss and represents only a minor fraction of all cases. The aim of this study was to investigate the cause of X-linked nonsyndromic sensorineural hearing loss in a three-generation American family. Methods Whole-exome sequencing and co-segregation analysis were used to identify disease-causing genes. Results In this study, we described in detail the clinical characteristics of the family and identified a novel frameshift mutation creating a premature stop codon (c.133-1 G > A, p.(Gly45fs*36)) of SMPX. The loss-of-function mutation was co-segregated with the progressive hearing loss phenotype and was absent in 200 normal controls. Conclusions We report the first SMPX (DFNX4) mutation in a North American family. Our findings contribute to the existing genotypic and phenotypic spectrum of SMPX associated hearing loss. Furthermore, our data suggest that exome sequencing is promising in the genetic diagnosis of hearing loss.
AB - Objective X-linked nonsyndromic hearing impairment is the rarest form of genetic hearing loss and represents only a minor fraction of all cases. The aim of this study was to investigate the cause of X-linked nonsyndromic sensorineural hearing loss in a three-generation American family. Methods Whole-exome sequencing and co-segregation analysis were used to identify disease-causing genes. Results In this study, we described in detail the clinical characteristics of the family and identified a novel frameshift mutation creating a premature stop codon (c.133-1 G > A, p.(Gly45fs*36)) of SMPX. The loss-of-function mutation was co-segregated with the progressive hearing loss phenotype and was absent in 200 normal controls. Conclusions We report the first SMPX (DFNX4) mutation in a North American family. Our findings contribute to the existing genotypic and phenotypic spectrum of SMPX associated hearing loss. Furthermore, our data suggest that exome sequencing is promising in the genetic diagnosis of hearing loss.
KW - DFNX4
KW - Exome sequence
KW - Novel mutation
KW - SMPX
KW - X-linked hearing loss
UR - http://www.scopus.com/inward/record.url?scp=85032817072&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85032817072&partnerID=8YFLogxK
U2 - 10.1016/j.ijporl.2017.10.040
DO - 10.1016/j.ijporl.2017.10.040
M3 - Article
C2 - 29287879
AN - SCOPUS:85032817072
VL - 104
SP - 47
EP - 50
JO - International Journal of Pediatric Otorhinolaryngology
JF - International Journal of Pediatric Otorhinolaryngology
SN - 0165-5876
ER -