title: Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients.
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.
authors.affiliation: Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy. Electronic address: diego.vozzi@burlo.trieste.it.
authors.forename: D
authors.initials: D
authors.lastname: Vozzi
authors.affiliation: Department of Medical Sciences, University of Trieste, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Morgan
authors.affiliation: Department of Medical Sciences, University of Trieste, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Vuckovic
authors.affiliation: Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.
authors.forename: A
authors.initials: A
authors.lastname: D'Eustacchio
authors.affiliation: Audiology and Balance Unit, National Program for Early Detection of Hearing Loss, WH, Hamad Medical Corporation (HMC), Doha, Qatar.
authors.forename: K
authors.initials: K
authors.lastname: Abdulhadi
authors.affiliation: Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Rubinato
authors.affiliation: Molecular Genetics Laboratory, Laboratory of Medicine and Pathology, Hamad Medical Corporation (HMC), Doha, Qatar.
authors.forename: R
authors.initials: R
authors.lastname: Badii
authors.affiliation: Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy; Department of Medical Sciences, University of Trieste, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Gasparini
authors.affiliation: Department of Medical Sciences, University of Trieste, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Girotto
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D002352:Carrier Proteins / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics; D005260:Female; D058851:GPI-Linked Proteins / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D034381:Hearing Loss / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D009218:Myosins / Q000235:genetics; D009363:Neoplasm Proteins / Q000235:genetics; D010375:Pedigree; D011780:Qatar; D017422:Sequence Analysis, DNA / Q000379:methods*; D012697:Serine Endopeptidases / Q000235:genetics; D020506:Untranslated Regions
chemical_list: D002352:Carrier Proteins; D016326:Extracellular Matrix Proteins; D058851:GPI-Linked Proteins; C543906:LOXHD1 protein, human; C485245:MYO15A protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins; C491350:TECTA protein, human; D020506:Untranslated Regions; D012697:Serine Endopeptidases; C409042:TMPRSS3 protein, human; D009218:Myosins
keywords: Deafness; Hearing loss; Targeted sequencing