Hearing impairment in Estonia: An algorithm to investigate genetic causes in pediatric patients

Advances in Medical Sciences - Tập 58 - Trang 419-428 - 2013
R Teek1,2, K Kruustük3, R Žordania1, K Joost1, T Kahre1,2, N Tõnisson1,4, M Nelis5,6,7, O Zilina1,4, L Tranebjaerg8,9,10, T Reimand1,2, K Õunap1,2
1Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia
2Department of Pediatrics, University of Tartu, Tartu, Estonia
3Ear Clinic, Tartu University Hospital, Tartu, Estonia
4Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia
5Estonian Biocentre, Tartu, Estonia
6Estonian Genome Center, University of Tartu, Tartu, Estonia
7Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
8Department of Audiology, H:S Bispebjerg Hospital, Copenhagen, Denmark
9Wilhelm Johannsen Centre of Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark
10The Panum Institute, University of Copenhagen, Copenhagen, Denmark

Tài liệu tham khảo

Kemperman, 2002, Hearing loss and connexin 26, J R Soc Med, 95, 171, 10.1258/jrsm.95.4.171

Marazita, 1993, Genetic epidemiological studies of early-onset deafness in the U.S. school-age population, Am J Med Genet, 46, 486, 10.1002/ajmg.1320460504

Cryns, 2004, A genotype-phenotype correlation for GJB2 (connexin 26) deafness, J Med Genet, 41, 147, 10.1136/jmg.2003.013896

Snoeckx, 2005, GJB2 mutations and degree of hearing loss: a multicenter study, Am J Hum Genet, 77, 945, 10.1086/497996

Norris, 2006, Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness, Ear Hear, 27, 732, 10.1097/01.aud.0000240492.78561.d3

Smith, 2003, Genetic screening for deafness, Pediatr Clin North Am, 50, 315, 10.1016/S0031-3955(03)00026-9

Yaeger, 2006, Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic, Am J Med Genet A, 140, 827, 10.1002/ajmg.a.31179

Online database of Hereditary Hearing Loss Homepage [Internet]

Green, 1999, Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness, JAMA, 281, 2211, 10.1001/jama.281.23.2211

Bayazit, 2006, An overview of hereditary hearing loss, ORL J Otorhinolaryngol Relat Spec, 68, 57, 10.1159/000091090

Petersen, 2006, Non-syndromic, autosomal-recessive deafness, Clin Genet, 69, 371, 10.1111/j.1399-0004.2006.00613.x

Guilford, 1994, A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q, Nat Genet, 6, 24, 10.1038/ng0194-24

Gardner, 2006, Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up, Pediatrics, 118, 985, 10.1542/peds.2005-2519

Teek, 2010, Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia, Int J Pediatr Otorhinolaryngol, 74, 1007, 10.1016/j.ijporl.2010.05.026

2003

Colella, 2007, QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data, Nucleic Acids Res, 35, 2013, 10.1093/nar/gkm076

Nelis, 2009, Genetic structure of Europeans: a view from the North-East, PloS one, 4, e5472, 10.1371/journal.pone.0005472

Ito, 2011, SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct, Cell Physiol Biochem, 28, 545, 10.1159/000335119

Choi, 2009, Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes, J Med Genet, 46, 856, 10.1136/jmg.2009.067892

Bull, 2011, Health supervision for children with Down syndrome, Pediatrics, 128, 393, 10.1542/peds.2011-1605

Modamio-Hoybjor, 2004, A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci, J Med Genet, 41, e14, 10.1136/jmg.2003.012500

Mencia, 2009, Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss, Nat Genet, 41, 609, 10.1038/ng.355

McGuirt, 1999, Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13), Nat Genet, 23, 413, 10.1038/70516

Brown, 1997, A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p, Am J Hum Genet, 61, 924, 10.1086/514892

Kunst, 2000, Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21), Clin Otolaryngol Allied Sci, 25, 45, 10.1046/j.1365-2273.2000.00327.x

Snoeckx, 2004, A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3, J Med Genet, 41, 11, 10.1136/jmg.2003.010702

D'Adamo, 2003, A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family, Hum Genet, 112, 319, 10.1007/s00439-002-0880-6

Donaudy, 2003, Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss, Am J Hum Genet, 72, 1571, 10.1086/375654

Tazawa, 2005, SLC5A9/SGLT4, a new Na+-dependent glucose transporter, is an essential transporter for mannose, 1,5-anhydro-D-glucitol, and fructose, Life Sci, 76, 1039, 10.1016/j.lfs.2004.10.016

Mount, 2004, The SLC26 gene family of multifunctional anion exchangers, Pflugers Arch, 447, 710, 10.1007/s00424-003-1090-3

Löppönen, 2003, Connexin 26 mutations and nonsyndromic hearing impairment in northern Finland, Laryngoscope, 113, 1758, 10.1097/00005537-200310000-00018

Pandya, 2003, Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands, Genet Med, 5, 295, 10.1097/01.GIM.0000078026.01140.68

del Castillo, 2002, A deletion involving the connexin 30 gene in nonsyndromic hearing impairment, N Engl J Med, 346, 243, 10.1056/NEJMoa012052

Xia, 1998, Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment, Nat Genet, 20, 370, 10.1038/3845

Park, 2003, Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness, J Med Genet, 40, 242, 10.1136/jmg.40.4.242

Kopp, 2008, Pendred syndrome and iodide transport in the thyroid, Trends Endocrinol Metab, 19, 260, 10.1016/j.tem.2008.07.001

Xing, 2007, Mitochondrial rRNA and tRNA and hearing function, Cell Res, 17, 227, 10.1038/sj.cr.7310124

Hutchin, 2001, Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction, Eur J Hum Genet, 9, 385, 10.1038/sj.ejhg.5200640

Hochstenbach, 2009, Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands, Eur J Med Genet, 52, 161, 10.1016/j.ejmg.2009.03.015

Kenneson, 2007, Review and meta-analysis of the epidemiology of congenital cytomegalovirus (CMV) infection, Rev Med Virol, 17, 253, 10.1002/rmv.535

Grosse, 2008, Congenital cytomegalovirus (CMV) infection as a cause of permanent bilateral hearing loss: a quantitative assessment, J Clin Virol, 41, 57, 10.1016/j.jcv.2007.09.004

Ludwig, 2009, Epidemiological impact and disease burden of congenital cytomegalovirus infection in Europe, Euro Surveill, 14, 26, 10.2807/ese.14.09.19140-en

Fowler, 1999, Newborn hearing screening: will children with hearing loss caused by congenital cytomegalovirus infection be missed?, J Pediatr, 135, 60, 10.1016/S0022-3476(99)70328-8

Schrauwen, 2013, A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing, Am J Med Genet A, 161A, 145, 10.1002/ajmg.a.35737