Forty-six genes causing nonsyndromic hearing impairment: Which ones should be analyzed in DNA diagnostics?

Morton, 2006, Newborn hearing screening—a silent revolution, N. Engl. J. Med., 354, 2151, 10.1056/NEJMra050700 Kenneson, 2007, Review and meta-analysis of the epidemiology of congenital cytomegalovirus (CMV) infection, Rev. Med. Virol., 17, 253, 10.1002/rmv.535 Van Camp, 1997, Nonsyndromic hearing impairment: unparalleled heterogeneity, Am. J. Hum. Genet., 60, 758 Toriello, 2004 Cryns, 2004, Deafness genes and their diagnostic applications, Audiol. Neurootol., 9, 2, 10.1159/000074183 Kenneson, 2002, GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review, Genet. Med., 4, 258, 10.1097/00125817-200207000-00004 Snoeckx, 2005, GJB2 mutations and degree of hearing loss: a multicenter study, Am. J. Hum. Genet., 77, 945, 10.1086/497996 Gasparini, 2000, High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG, Eur. J. Hum. Genet., 8, 19, 10.1038/sj.ejhg.5200406 Morell, 1998, Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness, N. Engl. J. Med., 339, 1500, 10.1056/NEJM199811193392103 Ohtsuka, 2003, GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation, Hum. Genet., 112, 329, 10.1007/s00439-002-0889-x del Castillo, 2002, A deletion involving the connexin 30 gene in nonsyndromic hearing impairment, N. Engl. J. Med., 346, 243, 10.1056/NEJMoa012052 del Castillo, 2005, A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment, J. Med. Genet., 42, 588, 10.1136/jmg.2004.028324 Common, 2005, Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830), Clin. Exp. Dermatol., 30, 688, 10.1111/j.1365-2230.2005.01878.x Reardon, 2000, Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene, QJM, 93, 99, 10.1093/qjmed/93.2.99 Coyle, 1998, Molecular analysis of the PDS gene in Pendred syndrome, Hum. Mol. Genet., 7, 1105, 10.1093/hmg/7.7.1105 Yang, 2007, Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4), Am. J. Hum. Genet., 80, 1055, 10.1086/518314 Azaiez, 2007, Genotype–phenotype correlations for SLC26A4-related deafness, Hum. Genet., 122, 451, 10.1007/s00439-007-0415-2 Nal, 2007, Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing, Hum. Mutat., 28, 1014, 10.1002/humu.20556 Rodriguez-Ballesteros, 2008, A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy, Hum. Mutat., 29, 823, 10.1002/humu.20708 Rodriguez-Ballesteros, 2003, Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF), Hum. Mutat., 22, 451, 10.1002/humu.10274 Delmaghani, 2006, Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy, Nat. Genet., 38, 770, 10.1038/ng1829 Becirovic, 2008, Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing, Hum. Mutat., 29, 452, 10.1002/humu.9526 Hilgert, 2008, Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11, Clin. Genet., 10.1111/j.1399-0004.2008.01053.x Cryns, 2003, Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease, Hum. Mutat., 22, 275, 10.1002/humu.10258 Lesperance, 2003, Mutations in the Wolfram syndrome type 1 gene (WFS1) define a clinical entity of dominant low-frequency sensorineural hearing loss, Arch. Otolaryngol. Head Neck Surg., 129, 411, 10.1001/archotol.129.4.411 Fukuoka, 2007, Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese, J. Hum. Genet., 52, 510, 10.1007/s10038-007-0144-3 Cryns, 2002, Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations, Hum. Genet., 110, 389, 10.1007/s00439-002-0719-1 Gomez-Zaera, 2001, Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees, Mol. Genet. Metab., 72, 72, 10.1006/mgme.2000.3107 Colosimo, 2003, Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay, Hum. Mutat., 21, 622, 10.1002/humu.10215 Topsakal, 2005, Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S), Otol. Neurotol., 26, 52, 10.1097/00129492-200501000-00009 Kamada, 2006, A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation, J. Hum. Genet., 51, 455, 10.1007/s10038-006-0384-7 Van Camp, 2002, A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment, Hum. Mutat., 20, 15, 10.1002/humu.10096 Kemperman, 2005, Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation, Otol. Neurotol., 26, 926, 10.1097/01.mao.0000185062.12458.87 Street, 2005, A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction, Am. J. Med. Genet. A, 139, 86, 10.1002/ajmg.a.30980 Fransen, 2001, A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation, J. Med. Genet., 38, 61, 10.1136/jmg.38.1.61 de Zwart-Storm, 2008, A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness, J. Med. Genet., 45, 161, 10.1136/jmg.2007.052332 Richard, 2002, Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis–ichthyosis–deafness syndrome, Am. J. Hum. Genet., 70, 1341, 10.1086/339986 Pfister, 2004, A genotype–phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations, Cell. Physiol. Biochem., 14, 369, 10.1159/000080347 Vore, 2005, Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness, Arch. Otolaryngol. Head Neck Surg., 131, 1057, 10.1001/archotol.131.12.1057 Kokotas, 2007, Mitochondrial deafness, Clin. Genet., 71, 379, 10.1111/j.1399-0004.2007.00800.x Jin, 2007, Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss, Biochem. Biophys. Res. Commun., 361, 133, 10.1016/j.bbrc.2007.06.171 Hearing, 2007, Year 2007 position statement: principles and guidelines for early hearing detection and intervention programs, Pediatrics, 120, 898, 10.1542/peds.2007-2333 Connell, 2007, Performance after cochlear implantation in DFNB1 patients, Otolaryngol. Head Neck Surg., 137, 596, 10.1016/j.otohns.2007.02.017 Alasti, 2008, A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families, Int. J. Pediatr. Otorhinolaryngol., 72, 249, 10.1016/j.ijporl.2007.09.023 Cox, 2007, An integrated approach to molecular diagnostic testing for hearing loss and related syndromes Okou, 2007, Microarray-based genomic selection for high-throughput resequencing, Nature Methods, 4, 907, 10.1038/nmeth1109 Cohen, 2007, The changing face of Usher syndrome: clinical implications, Int. J. Audiol., 46, 82, 10.1080/14992020600975279