Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.

@article{Migliosi2002Q829XAN,
  title={Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.},
  author={Vanessa Migliosi and Silvia Modamio-H{\o}ybj{\o}r and Miguel A Moreno-Pelayo and Montserrat Rodr{\'i}guez-Ballesteros and Manuela Villamar and Dolores Teller{\'i}a and Ibis Men{\'e}ndez and Felipe Moreno and Ignacio Del Castillo},
  journal={Journal of medical genetics},
  year={2002},
  volume={39 7},
  pages={
          502-6
        }
}
Inherited hearing impairment is a highly heterogeneous group of disorders with an overall incidence of about 1 in 2000 newborns.1 Among them, prelingual, severe hearing loss with no other associated clinical feature (non-syndromic) is by far the most frequent.1 It represents a serious handicap for speech acquisition, and therefore early detection is essential for the application of palliative treatment and special education. Hence genetic diagnosis and counselling are being increasingly… CONTINUE READING

Citations

Publications citing this paper.
SHOWING 1-10 OF 35 CITATIONS

Genetics of isolated auditory neuropathies.

VIEW 19 EXCERPTS
CITES BACKGROUND

A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function.

  • The Journal of neuroscience : the official journal of the Society for Neuroscience
  • 2007
VIEW 7 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

References

Publications referenced by this paper.
SHOWING 1-10 OF 26 REFERENCES

Mutations in the connexin 26 / GJB 2 gene are the most common event in non - syndromic hearing loss among the German population

J Löffler, D Nekahm, +4 authors AR Janecke
  • Hum Mutat
  • 2001

Mutations in the gene encoding tight junction claudin - 14 cause autosomal recessive deafness DFNB 29

C Dib, S Fauré, +11 authors J Weissenbach
  • Cell
  • 2001

Molecular basis of childhood deafness resulting from mutations in the GJB 2 ( connexin 26 gene )

SA Wilcox, K Saunders, +10 authors Dahl HHM
  • Hum Genet
  • 2000

Physical map of the region surrounding the OTOFERLIN locus on chromosome 2 p 22p 23

J Keen, D Lester, C Ingelhearn, A Curtis, S Bhattacharya
  • Genomics
  • 2000