A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss

Zhijie Niu; Denise Yan; Sara Bressler; Lingyun Mei; Yong Feng; Xuezhong Liu

doi:10.1016/j.ijporl.2017.10.040

A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss

Zhijie Niu, Denise Yan, Sara Bressler, Lingyun Mei, Yong Feng, Xuezhong Liu

Otolaryngology

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

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	https://doi.org/10.1016/j.ijporl.2017.10.040
State	Published - Jan 2018

Keywords

DFNX4
Exome sequence
Novel mutation
SMPX
X-linked hearing loss

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Otorhinolaryngology

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@article{a922ace348e1477b98113edf025ebb53,

title = "A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss",

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.",

keywords = "DFNX4, Exome sequence, Novel mutation, SMPX, X-linked hearing loss",

author = "Zhijie Niu and Denise Yan and Sara Bressler and Lingyun Mei and Yong Feng and Xuezhong Liu",

note = "Funding Information: We thank the study families for their enthusiastic participation. We also thank the genotyping and sequencing core facilities at PEDISEQ for their technical help. This work was supported in part by the National Institutes of Health / National Institute on Deafness and Other Communication Disorders (Grants No. R01 DC05575 , R01 DC01246 , 2P50DC000422 -Sub-Project 6432 , and R01 DC012115 ), the National 973 Basic Research Program of China (Grant Nos. 2014CB541702 and 2014CB943003 ), the National Natural Science Foundation of China (Grant No. 81470705 ), and the Postgraduate Program of China Scholarships Council (Grant No. [ 2016]3100 ). ",

year = "2018",

month = jan,

doi = "10.1016/j.ijporl.2017.10.040",

language = "English (US)",

volume = "104",

pages = "47--50",

journal = "International Journal of Pediatric Otorhinolaryngology",

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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, Xuezhong

N1 - Funding Information: We thank the study families for their enthusiastic participation. We also thank the genotyping and sequencing core facilities at PEDISEQ for their technical help. This work was supported in part by the National Institutes of Health / National Institute on Deafness and Other Communication Disorders (Grants No. R01 DC05575 , R01 DC01246 , 2P50DC000422 -Sub-Project 6432 , and R01 DC012115 ), the National 973 Basic Research Program of China (Grant Nos. 2014CB541702 and 2014CB943003 ), the National Natural Science Foundation of China (Grant No. 81470705 ), and the Postgraduate Program of China Scholarships Council (Grant No. [ 2016]3100 ).

PY - 2018/1

Y1 - 2018/1

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

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KW - Novel mutation

KW - SMPX

KW - X-linked hearing loss

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A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss

Abstract

Keywords

ASJC Scopus subject areas

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