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Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction
  1. S Naz1,
  2. A J Griffith2,3,
  3. S Riazuddin1,
  4. L L Hampton4,
  5. J F Battey , Jr4,
  6. S N Khan5,
  7. S Riazuddin5,
  8. E R Wilcox1,
  9. T B Friedman1
  1. 1Section on Human Genetics, LMG, NIDCD, NIH, Rockville, MD 20850, USA
  2. 2Section on Gene Structure and Function, LMG, NIDCD, NIH, Rockville, MD, USA
  3. 3Hearing Section, NIDCD, NIH, Rockville, MD, USA
  4. 4Section on G-protein Coupled Receptors, NINDS, NIH, Bethesda, MD, USA
  5. 5National Center of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan
  1. Correspondence to:
 Dr T B Friedman
 Laboratory of Molecular Genetics, NIDCD, NIH, Rockville, MD 20850, USA; friedmannidcd.nih.gov

Abstract

We mapped a human deafness locus DFNB36 to chromosome 1p36.3 in two consanguineous families segregating recessively inherited deafness and vestibular areflexia. This phenotype co-segregates with either of two frameshift mutations, 1988delAGAG and 2469delGTCA, in ESPN, which encodes a calcium-insensitive actin-bundling protein called espin. A recessive mutation of ESPN is known to cause hearing loss and vestibular dysfunction in the jerker mouse. Our results establish espin as an essential protein for hearing and vestibular function in humans. The abnormal vestibular phenotype associated with ESPN mutations will be a useful clinical marker for refining the differential diagnosis of non-syndromic deafness.

  • ABM, actin-bundling module
  • ENG, electronystagmography
  • ERG, electroretinography
  • IRB, Institutional Review Board
  • RP, retinitis pigmentosa
  • actin
  • DFNB36
  • espin
  • ESPN
  • ESPNP
  • pseudogene
  • vestibular dysfunction

https://doi.org/10.1136/jmg.2004.018523

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    Footnotes

    • Part of the study carried out in Pakistan was supported by a grant from the Higher Education Commission in Islamabad. Intramural funds from the National Institute on Deafness and Other Communication Disorders (Z01 DC000035-07, Z01 DC000064-03, Z01 DC000039-07) supported this work.

    • Conflict of interest: none declared.

    • GenBank accession numbers: mouse Espn AF239886, rat Espn NM_019622.1, human ESPN AL136880, ESPNP (LOC284729) AL035288; ESPN genomic sequence AL031848 and AL158217; genomic sequence for ESPNP AL021920; EST for ESPNP CB987978.