High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel

  1. G Borck1,
  2. L Rainshtein2,
  3. S Hellman-Aharony3,
  4. AE Volk1,
  5. K Friedrich1,
  6. E Taub2,
  7. N Magal2,
  8. M Kanaan4,
  9. C Kubisch1,
  10. M Shohat2,3,5,
  11. L Basel-Vanagaite2,3,5,6,*

Article first published online: 18 JUL 2011

DOI: 10.1111/j.1399-0004.2011.01741.x

Issue

Clinical Genetics

Clinical Genetics

Volume 82, Issue 3, pages 271–276, September 2012

Additional Information

How to Cite

Borck, G., Rainshtein, L., Hellman-Aharony, S., Volk, A., Friedrich, K., Taub, E., Magal, N., Kanaan, M., Kubisch, C., Shohat, M. and Basel-Vanagaite, L. (2012), High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel. Clinical Genetics, 82: 271–276. doi: 10.1111/j.1399-0004.2011.01741.x

Author Information

  1. 1

    Institute of Human Genetics, University of Ulm, Ulm, Germany

  2. 2

    Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel

  3. 3

    Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

  4. 4

    Department of Life Sciences, Bethlehem University, Bethlehem, Palestine

  5. 5

    Pediatric Genetics, Schneider Children's Medical Center of Israel, Petah Tikva, Israel

  6. 6

    Felsenstein Medical Research Center, Rabin Medical Center, Petah Tikva, Israel

*Lina Basel-Vanagaite, Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, 49100 Petah Tikva, Israel. Tel.: +972 3 9377659; fax: +972 3 9377660; e-mail: basel@post.tau.ac.il

Publication History

  1. Issue published online: 12 AUG 2012
  2. Article first published online: 18 JUL 2011
  3. Accepted manuscript online: 23 JUN 2011 04:50AM EST
  4. Received 13 May 2011, revised and accepted for publication 20 June 2011

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Keywords:

  • carriers;
  • consanguinity;
  • deafness;
  • hearing loss

Borck G, Rainshtein L, Hellman-Aharony S, Volk AE, Friedrich K, Taub E, Magal N, Kanaan M, Kubisch C, Shohat M, Basel-Vanagaite L. High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel.

Autosomal-recessive non-syndromic hearing impairment (DFNB) is usually of prelingual onset with a moderate to profound degree of hearing loss. More than 70 DFNB loci have been mapped and ∼40 causative genes have been identified. Non-syndromic hearing impairment caused by mutations of DFNB59 (encoding pejvakin) has been described in a couple of families in which affected individuals presented with either auditory neuropathy or hearing loss of cochlear origin. We have identified and clinically evaluated three consanguineous families of Israeli Arab origin with prelingual non-syndromic hearing impairment and absent otoacoustic emissions in a total of eight affected individuals. All the families originate from the same village and bear the same family name. We have identified a c.406C>T (p.R136X) nonsense mutation in the DFNB59 gene in affected individuals from these families. Among the inhabitants of the village, we found an exceptionally high carrier frequency of ∼1 in 12 individuals (7/85; 8.2%). The high prevalence of hearing impairment can be explained by a founder effect and the high consanguinity rate among the inhabitants of this village.

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