Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene.

@article{Mustapha2001AutosomalRN,
  title={Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene.},
  author={Mirna Mustapha and Nid{\'a} M. Salem and Val{\'e}rie Delague and Eliane Chouery and M Ghassibeh and Mohit Kumar Rai and Jacques Loiselet and Christine Petit and Andr{\'e} M{\'e}garban{\'e}},
  journal={Journal of medical genetics},
  year={2001},
  volume={38 10},
  pages={
          E36
        }
}
Editor—The most common sensory deficit in humans is hearing loss, affecting 1 in 1000 children, with approximately half of the cases having a genetic cause. The majority of these genetic causes are non-syndromic, of which approximately 75% have an autosomal recessive mode of inheritance.1 So far, nearly 30 genes that cause non-syndromic recessive deafness (NSRD) have been located (for review see http://dnalab-www.uia.ac.be/dnalab/hhh). The loci corresponding to NSRD are designated DFNB, with a… CONTINUE READING

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References

Publications referenced by this paper.
SHOWING 1-10 OF 32 REFERENCES

A simple PCR test to detect the common 35delG mutation in the connexin 26 gene.

  • Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology
  • 2000

Mutation analysis of the GJB 2 ( connexin 26 ) gene by DGGE in Greek patients with sensorineural deafness

T Antoniadi, K Gronskov, +3 authors MB Petersen
  • Hum Mutat
  • 2000