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

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


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 languageEnglish (US)
Pages (from-to)47-50
Number of pages4
JournalInternational Journal of Pediatric Otorhinolaryngology
StatePublished - Jan 2018


  • DFNX4
  • Exome sequence
  • Novel mutation
  • SMPX
  • X-linked hearing loss

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Otorhinolaryngology


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