A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family

Zhijie Niu, Yong Feng, Lingyun Mei, Jie Sun, Xueping Wang, Juncheng Wang, Zhengmao Hu, Yunpeng Dong, Hongsheng Chen, Chufeng He, Yalan Liu, Xinzhang Cai, Xue Z Liu, Lu Jiang

Research output: Contribution to journalArticle

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Abstract

X-linked hearing impairment is the rarest form of genetic hearing loss (HL) and represents only a minor fraction of all cases. The aim of this study was to investigate the cause of Xlinked inherited sensorineural HL in a four-generation Chinese family. A novel duplication variant (c.217dupA, p.Ile73Asnfs∗5) in SMPX was identified by whole-exome sequencing. The frameshift mutation predicted to result in the premature truncation of the SMPX protein was co-segregated with the HL phenotype and was absent in 295 normal controls. Subpopulation screening of the coding exons and flanking introns of SMPX was further performed for 338 Chinese patients with nonsydromic HL by Sanger sequencing, and another two potential causative substitutions (c.238C>A and c.55A>G) in SMPX were identified in additional sporadic cases of congenital deafness. Collectively, this study is the first to report the role of SMPX in Chinese population and identify a novel frameshift mutation in SMPX that causes not only nonsyndromic late-onset progressive HL, but also congenital hearing impairment. Our findings extend the mutation and phenotypic spectrum of the SMPX gene.

Original languageEnglish (US)
Article numbere0178384
JournalPLoS One
Volume12
Issue number5
DOIs
StatePublished - May 1 2017

Fingerprint

frameshift mutation
Frameshift Mutation
Audition
hearing
Hearing Loss
Exome
Sensorineural Hearing Loss
deafness
Deafness
Introns
Nonsyndromic Deafness
Exons
exons
introns
Screening
Substitution reactions
Phenotype
Genes
Mutation
screening

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Agricultural and Biological Sciences(all)

Cite this

A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family. / Niu, Zhijie; Feng, Yong; Mei, Lingyun; Sun, Jie; Wang, Xueping; Wang, Juncheng; Hu, Zhengmao; Dong, Yunpeng; Chen, Hongsheng; He, Chufeng; Liu, Yalan; Cai, Xinzhang; Liu, Xue Z; Jiang, Lu.

In: PLoS One, Vol. 12, No. 5, e0178384, 01.05.2017.

Research output: Contribution to journalArticle

Niu, Z, Feng, Y, Mei, L, Sun, J, Wang, X, Wang, J, Hu, Z, Dong, Y, Chen, H, He, C, Liu, Y, Cai, X, Liu, XZ & Jiang, L 2017, 'A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family', PLoS One, vol. 12, no. 5, e0178384. https://doi.org/10.1371/journal.pone.0178384
Niu, Zhijie ; Feng, Yong ; Mei, Lingyun ; Sun, Jie ; Wang, Xueping ; Wang, Juncheng ; Hu, Zhengmao ; Dong, Yunpeng ; Chen, Hongsheng ; He, Chufeng ; Liu, Yalan ; Cai, Xinzhang ; Liu, Xue Z ; Jiang, Lu. / A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family. In: PLoS One. 2017 ; Vol. 12, No. 5.
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