Hereditary hearing loss

A 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients

D. Vozzi, A. Morgan, D. Vuckovic, A. D'Eustacchio, K. Abdulhadi, E. Rubinato, R. Badii, P. Gasparini, G. Girotto

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

Deafness is a really common disorder in humans. It can begin at any age with any degree of severity. Hereditary hearing loss is characterized by a vast genetic heterogeneity with more than 140 loci described in humans but only 65 genes so far identified. Families affected by hearing impairment would have real advantages from an early molecular diagnosis that is of primary relevance in genetic counseling. In this perspective, here we report a family-based approach employing Ion Torrent DNA sequencing technology to analyze coding and UTR regions of 96 genes related to hearing function and loss in a first series of 12 families coming from Italy and Qatar. Using this approach we were able to find the causative gene in 4 out of these 12 families (33%). In particular 5 novel alleles were identified in the following genes LOXHD1, TMPRSS3, TECTA and MYO15A already associated with hearing impairment. Our study confirms the usefulness of a targeted sequencing approach despite larger numbers are required for further validation and for defining a molecular epidemiology picture of hearing loss in these two countries.

Original languageEnglish
Pages (from-to)209-216
Number of pages8
JournalGene
Volume542
Issue number2
DOIs
Publication statusPublished - Jun 1 2014

Fingerprint

Hearing Loss
Alleles
Genes
Qatar
Untranslated Regions
Genetic Heterogeneity
Molecular Epidemiology
Genetic Counseling
Deafness
DNA Sequence Analysis
Italy
Early Diagnosis
Ions
Technology

Keywords

  • Deafness
  • Hearing loss
  • Targeted sequencing

ASJC Scopus subject areas

  • Genetics

Cite this

Hereditary hearing loss : A 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients. / Vozzi, D.; Morgan, A.; Vuckovic, D.; D'Eustacchio, A.; Abdulhadi, K.; Rubinato, E.; Badii, R.; Gasparini, P.; Girotto, G.

In: Gene, Vol. 542, No. 2, 01.06.2014, p. 209-216.

Research output: Contribution to journalArticle

Vozzi, D. ; Morgan, A. ; Vuckovic, D. ; D'Eustacchio, A. ; Abdulhadi, K. ; Rubinato, E. ; Badii, R. ; Gasparini, P. ; Girotto, G. / Hereditary hearing loss : A 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients. In: Gene. 2014 ; Vol. 542, No. 2. pp. 209-216.
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