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

Advances in Medical Sciences

Volumn 58, Issue 2, 2013, Pages 419-428

  Teek, R ^a,b   Kruustuk K ^a   Zordania R ^a   Joost, K ^a   Kahre, T ^a,b   Tonisson N ^a,b   Nelis, M ^c,d   Zilina, O ^a   Tranebjaerg, L ^e,f,g   Reimand, T ^a,b   Ounap K ^a,b  

^a TARTU UNIVERSITY HOSPITAL   (Estonia)

^b UNIVERSITY OF TARTU   (Estonia)

^c UNIVERSITY OF TARTU   (Estonia)

^d UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^e BISPEBJERG HOSPITAL   (Denmark)

^f UNIVERSITY OF COPENHAGEN   (Denmark)

^g UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

Chromosomal microarray analysis; Congenital cytomegalovirus; GJB2 gene; Sensorineural hearing loss

Indexed keywords

MITOCHONDRIAL DNA; SERINE TRANSFER RNA;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION; CYTOGENETICS; CYTOMEGALOVIRUS INFECTION; DNA DETERMINATION; ESTONIA; FAILURE TO THRIVE; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ALGORITHM; GENETIC VARIABILITY; GENOTYPE; HEARING IMPAIRMENT; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HYPERTELORISM; INFANT; INTELLECTUAL IMPAIRMENT; KARYOTYPE 46,XY; MAJOR CLINICAL STUDY; MALE; MITOCHONDRIAL GENE; MUSCLE HYPOTONIA; NEWBORN; PALPEBRAL FISSURE; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; PROTEIN GLYCOSYLATION; PULMONARY VALVE STENOSIS; SCHOOL CHILD; THORAX DEFORMITY; YOUNG ADULT;

ADOLESCENT; AGE OF ONSET; ALGORITHMS; ANION TRANSPORT PROTEINS; CHILD; CHILD, PRESCHOOL; CONNEXINS; CYTOMEGALOVIRUS INFECTIONS; ESTONIA; FEMALE; HEARING LOSS, SENSORINEURAL; HEARING TESTS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MEMBRANE TRANSPORT PROTEINS; RNA, RIBOSOMAL;

EID: 84896885402     PISSN: 18961126     EISSN: 18984002     Source Type: Journal    
DOI: 10.2478/ams-2013-0001     Document Type: Article

References (57)

1. Kemperman MH, Hoefsloot LH, Cremers CW. Hearing loss and connexion 26. J R Soc Med. 2002 Apr;95(4):171-7.
2. Marazita ML, Ploughman LM, Rawlings B, Remington E, Arnos KS, Nance WE. Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am J Med Genet. 1993 Jun 15;46(5):486-91.
3. Cryns K, Orzan E, Murgia A, Huygen PL, Moreno F, del Castillo I, et al. A genotype-phenotype correlation for GJB2 (connexin 26) deafness. J Med Genet. 2004 Mar;41(3):147-54.
4. Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, et al. GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet. 2005 Dec;77(6):945-57.
5. Hilgert N, Smith RJ, Van Camp G. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res. 2009 Mar-Jun;681(2-3):189-96.
6. Norris VW, Arnos KS, Hanks WD, Xia X, Nance WE, Pandya A. Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness. Ear Hear. 2006 Dec;27(6):732-41.
7. Smith RJ, Hone S. Genetic screening for deafness. Pediatr Clin North Am. 2003 Apr;50(2):315-29.
8. Finsterer J, Fellinger J. Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing. Int J Pediatr Otorhinolaryngol. 2005 May;69(5):621-47.
9. Yaeger D, McCallum J, Lewis K, Soslow L, Shah U, Potsic W, et al. 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. 2006 Apr 15;140(8):827-36.
10. Online database of Hereditary Hearing Loss Homepage [Internet]. Antwerp: University of Antwerp. [cited 2012 March 9]. Available from: http://hereditaryhearingloss.org.
11. Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA. 1999 Jun 16;281(23):2211-6.
12. Bayazit YA, Yilmaz M. An overview of hereditary hearing loss. ORL J Otorhinolaryngol Relat Spec. 2006;68(2):57-63.
13. Petersen MB, Willems PJ. Non-syndromic, autosomal-recessive deafness. Clin Genet. 2006 May;69(5):371-92.
14. Guilford P, Ben Arab S, Blanchard S, Levilliers J, Weissenbach J, Belkahia A, et al. A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nat Genet. 1994 Jan;6(1):24-8.
15. Pampanos A, Economides J, Iliadou V, Neou P, Leotsakos P, Voyiatzis N, et al. Prevalence of GJB2 mutations in prelingual deafness in the Greek population. Int J Pediatr Otorhinolaryngol. 2002 Sep;65(2):101-8.
16. Gardner P, Oitmaa E, Messner A, Hoefsloot L, Metspalu A, Schrijver I. Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up. Pediatrics. 2006 Sep;118(3):985-94.
17. Teek R, Kruustuk K, Zordania R, Joost K, Reimand T, Mols T, et al. Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia. Int J Pediatr Otorhinolaryngol. 2010 Sep;74(9):1007-12.
18. The Winter-Baraitser Dysmorphology Database [Internet]. London (United Kingdom): London Medical Databases Ltd. 2003 - 2011 [cited 2012 March 9]. Available from: http://www.lmdatabases.com.
19. Colella S, Yau C, Taylor JM, Mirza G, Butler H, Clouston P, et al. QuantiSNP: an Objective Bayes Hidden- Markov Model to detect and accurately map copy number variation using SNP genotyping data. Nucleic Acids Res. 2007;35(6):2013-25.
20. Nelis M, Esko T, Magi R, Zimprich F, Zimprich A, Toncheva D, et al. Genetic structure of Europeans: a view from the North-East. PloS one. 2009;4(5):e5472.
21. Ito T, Choi BY, King KA, Zalewski CK, Muskett J, Chattaraj P, et al. SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct. Cell Physiol Biochem. 2011;28(3):545-52.
22. Choi BY, Madeo AC, King KA, Zalewski CK, Pryor SP, Muskett JA, et al. Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes. J Med Genet. 2009 Dec;46(12):856-61.
23. Teek R, Oitmaa E, Kruustuk K, Zordania R, Joost K, Raukas E, et al. Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss. Int J Pediatr Otorhinolaryngol. 2009 Jan;73(1):103-7.
24. Bull MJ; Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics. 2011 Aug;128(2):393-406.
25. Modamio-Hoybjor S, Moreno-Pelayo MA, Mencia A, del Castillo I, Chardenoux S, Morais D, et al. A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci. J Med Genet. 2004 Feb;41(2):e14.
26. Mencia A, Modamio-Hoybjor S, Redshaw N, Morin M, Mayo-Merino F, Olavarrieta L, et al. Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss. Nat Genet. 2009 May;41(5):609-13.
27. McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, Shpargel KB, et al. Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nat Genet. 1999 Dec;23(4):413-9.
28. Brown MR, Tomek MS, Van Laer L, Smith S, Kenyon JB, Van Camp G, et al. A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p. Am J Hum Genet. 1997 Oct;61(4):924-7.
29. Kunst H, Marres H, Huygen P, van Duijnhoven G, Krebsova A, van der Velde S, et al. Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21). Clin Otolaryngol Allied Sci. 2000 Feb;25(1):45-54.
30. Snoeckx RL, Kremer H, Ensink RJ, Flothmann K, de Brouwer A, Smith RJ, et al. A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3. J Med Genet. 2004 Jan;41(1):11-3.
31. D'Adamo P, Pinna M, Capobianco S, Cesarani A, D'Eustacchio A, Fogu P, et al. A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family. Hum Genet. 2003 Mar;112(3):319-20.
32. Donaudy F, Ferrara A, Esposito L, Hertzano R, Ben-David O, Bell RE, et al. Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss. Am J Hum Genet. 2003 Jun;72(6):1571-7.
33. Puusepp H, Zilina O, Teek R, Mannik K, Parkel S, Kruustuk K, et al. 5.9 Mb microdeletion in chromosome band 17q22-q23.2 associated with tracheo-esophageal fistula and conductive hearing loss. Eur J Med Genet. 2009 Jan- Feb;52(1):71-4.
34. Tazawa S, Yamato T, Fujikura H, Hiratochi M, Itoh F, Tomae M, et al. SLC5A9/SGLT4, a new Na+-dependent glucose transporter, is an essential transporter for mannose, 1,5-anhydro-D-glucitol, and fructose. Life Sci. 2005 Jan 14;76(9):1039-50.
35. Mount DB, Romero MF. The SLC26 gene family of multifunctional anion exchangers. Pflugers Arch. 2004 Feb;447(5):710-21.
36. Zinchenko RA, Osetrova AA, Sharonova EI. [Hereditary deafness in Kirov oblast: estimation of the incidence rate and DNA diagnosis in children]. Genetika. 2012 Apr;48(4):542-50.
37. Löppönen T, Väisänen ML, Luotonen M, Allinen M, Uusimaa J, Lindholm P, et al. Connexin 26 mutations and nonsyndromic hearing impairment in northern Finland. Laryngoscope. 2003 Oct;113(10):1758-63.
38. Pandya A, Arnos KS, Xia XJ, Welch KO, Blanton SH, Friedman TB, et al. Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Genet Med. 2003 Jul-Aug;5(4):295-303.
39. Schimmenti LA, Martinez A, Telatar M, Lai CH, Shapiro N, Fox M, et al. Infant hearing loss and connexin testing in a diverse population. Genet Med. 2008 Jul;10(7): 517-24.
40. Wang W, Cheng HB, Yang N, Shi YC, Liu JZ, Li Q, et al. [Analysis of GJB2 gene and mitochondrial DNA A1555G mutations in 16 families with non-syndromic hearing loss]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Aug;29(4):388-92. Chinese.
41. del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Telleria D, et al. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med. 2002 Jan;346(4):243-9.
42. Alexandrino F, Oliveira CA, Reis FC, Maciel- Guerra AT, Sartorato EL. Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness. J Appl Genet. 2004;45(2):249-54.
43. Xia JH, Liu CY, Tang BS, Pan Q, Huang L, Dai HP, et al. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet. 1998 Dec;20(4):370-3.
44. Liu XZ, Yuan Y, Yan D, Ding EH, Ouyang XM, Fei Y, et al. Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31. Hum Genet. 2009 Feb;125(1):53-62.
45. Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, et al. Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet. 2003 Apr;40(4):242-8.
46. Kopp P, Pesce L, Solis-S JC. Pendred syndrome and iodide transport in the thyroid. Trends Endocrinol Metab. 2008 Sep;19(7):260-8.
47. Xing G, Chen Z, Cao X. Mitochondrial rRNA and tRNA and hearing function. Cell Res. 2007 Mar;17(3):227-39.
48. Estivill X, Govea N, Barcelo E, Badenas C, Romero E, Moral L, et al. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am J Hum Genet. 1998 Jan;62(1):27-35.
49. Hutchin TP, Navarro-Coy NC, Van Camp G, Tiranti V, Zeviani M, Schuelke M, et al. Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction. Eur J Hum Genet. 2001 May;9(5):385-7.
50. Hochstenbach R, van Binsbergen E, Engelen J, Nieuwint A, Polstra A, Poddighe P, et al. 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. 2009 Jul-Aug;52(4):161-9.
51. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010 May 14;86(5):749-64.
52. Siggberg L, Ala-Mello S, Jaakkola E, Kuusinen E, Schuit R, Kohlhase J, et al. Array CGH in molecular diagnosis of mental retardation-A study of 150 Finnish patients. Am J Med Genet A. 2010 Jun;152A(6):1398-410.
53. Kenneson A, Cannon MJ. Review and metaanalysis of the epidemiology of congenital cytomegalovirus (CMV) infection. Rev Med Virol. 2007 Jul-Aug;17(4):253-76.
54. Grosse SD, Ross DS, Dollard SC. Congenital cytomegalovirus (CMV) infection as a cause of permanent bilateral hearing loss: a quantitative assessment. J Clin Virol. 2008 Feb;41(2):57-62.
55. Ludwig A, Hengel H. Epidemiological impact and disease burden of congenital cytomegalovirus infection in Europe. Euro Surveill. 2009 Mar;14(9):26-32.
56. Fowler KB, Dahle AJ, Boppana SB, Pass RF. Newborn hearing screening: will children with hearing loss caused by congenital cytomegalovirus infection be missed? J Pediatr. 1999 Jul;135(1):60-4.
57. Schrauwen I, Sommen M, Corneveaux JJ, Reiman RA, Hackett NJ, Claes C, et al. A sensitive and specific diagnostic test for hearing loss using a microdroplet PCRbased approach and next generation sequencing. Am J Med Genet A. 2013 Jan;161A(1):145-52.