Newborn genetic screening for hearing impairment: A preliminary study at a tertiary center

PLoS ONE

Volumn 6, Issue 7, 2011, Pages

  Wu, Chen Chi ^a   Hung, Chia Cheng ^a,b   Lin, Shin Yu ^a   Hsieh, Wu Shiun ^a   Tsao, Po Nien ^a   Lee, Chien Nan ^a   Su, Yi Ning ^a,b   Hsu, Chuan Jen ^a  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b NATIONAL TAIWAN UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; GUANINE; MITOCHONDRIAL RNA; RNA 12S;

ALLELE; ARTICLE; AUDIOMETRY; CONTROLLED STUDY; DISEASE SEVERITY; DISTORTION PRODUCT OTOACOUSTIC EMISSION; ETHNIC GROUP; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GJB2 GENE; HEARING IMPAIRMENT; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN SCREENING; POPULATION RESEARCH; SLC26A4 GENE; TAIWANESE; TERTIARY HEALTH CARE; DNA DENATURATION; FLUORESCENCE RESONANCE ENERGY TRANSFER; GENETICS; GENOTYPE; HEARING LOSS; HEARING TEST; HOSPITAL; HOSPITAL DISCHARGE; METHODOLOGY;

AUDIOMETRY; DEAFNESS; FLUORESCENCE RESONANCE ENERGY TRANSFER; GENETIC TESTING; GENOTYPE; HEARING LOSS; HEARING TESTS; HETEROZYGOTE; HOSPITALS; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; NUCLEIC ACID DENATURATION; PATIENT DISCHARGE;

EID: 79960469358     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0022314     Document Type: Article

References (62)

1. Kennedy CR, McCann DC, Campbell MJ, Law CM, Mullee M, et al. (2006) Language ability after early detection of permanent childhood hearing impairment. N Engl J Med 354: 2131-2141.
2. Thompson DC, McPhillips H, Davis RL, Lieu TL, Homer CJ, et al. (2001) Universal newborn hearing screening: summary of evidence. JAMA 286: 2000-2010.
3. Wake M, Tobin S, Cone-Wesson B, Dahl HH, Gillam L, et al. (2006) Slight/mild sensorineural hearing loss in children. Pediatrics 118: 1842-1851.
4. Yoshinaga-Itano C, Sedey AL, Coulter DK, Mehl AL, (1998) Language of early- and later-identified children with hearing loss. Pediatrics 102: 1161-1171.
5. Wessex Universal Neonatal Hearing Screening Trial Group (1998) Controlled trial of universal neonatal screening for early identification of permanent childhood hearing impairment. Lancet 352: 1957-1964.
6. Kennedy C, McCann D, Campbell MJ, Kimm L, Thornton R, (2005) Universal newborn screening for permanent childhood hearing impairment: an 8-year follow-up of a controlled trial. Lancet 366: 660-662.
7. Barsky-Firkser L, Sun S, (1997) Universal newborn hearing screenings: a three-year experience. Pediatrics 99: E4.
8. Vohr BR, Carty LM, Moore PE, Letourneau K, (1998) The Rhode Island Hearing Assessment Program: experience with statewide hearing screening (1993-1996). J Pediatr 133: 353-357.
9. Mason JA, Herrmann KR, (1998) Universal infant hearing screening by automated auditory brainstem response measurement. Pediatrics 101: 221-228.
10. Johnson JL, White KR, Widen JE, Gravel JS, James M, et al. (2005) A multicenter evaluation of how many infants with permanent hearing loss pass a two-stage otoacoustic emissions/automated auditory brainstem response newborn hearing screening protocol. Pediatrics 116: 663-672.
11. White KR, Forsman I, Eichwald J, Munoz K, (2010) The evolution of early hearing detection and intervention programs in the United States. Semin Perinatol 34: 170-179.
12. Smith RJ, Bale JF Jr, White KR, (2005) Sensorineural hearing loss in children. Lancet 365: 879-890.
13. Hilgert N, Smith RJ, Van Camp G, (2009) Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res 681: 189-196.
14. Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, et al. (2005) GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet 77: 945-957.
15. Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, et al. (1997) Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 17: 411-422.
16. Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, et al. (1998) A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 18: 215-217.
17. Mori T, Westerberg BD, Atashband S, Kozak FK, (2008) Natural history of hearing loss in children with enlarged vestibular aqueduct syndrome. J Otolaryngol Head Neck Surg 37: 112-118.
18. Kokotas H, Petersen MB, Willems PJ, (2007) Mitochondrial deafness. Clin Genet 71: 379-391.
19. Chang KW, Vohr BR, Norton SJ, Lekas MD, (1993) External and middle ear status related to evoked otoacoustic emission in neonates. Arch Otolaryngol Head Neck Surg 119: 276-282.
20. Wu CC, Chen PJ, Chiu YH, Lu YC, Wu MC, et al. (2008) Prospective mutation screening of three common deafness genes in a large Taiwanese Cohort with idiopathic bilateral sensorineural hearing impairment reveals a difference in the results between families from hospitals and those from rehabilitation facilities. Audiol Neurootol 13: 172-181.
21. Wu CC, Lu YC, Chen PJ, Liu AY, Hwu WL, et al. (2009) Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment. Laryngoscope 119: 2411-2416.
22. Wu CC, Lee YC, Chen PJ, Hsu CJ, (2008) Predominance of genetic diagnosis and imaging results as predictors in determining the speech perception performance outcome after cochlear implantation in children. Arch Pediatr Adolesc Med 162: 269-276.
23. Hwa HL, Ko TM, Hsu CJ, Huang CH, Chiang YL, et al. (2003) Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness. Genet Med 5: 161-165.
24. Wu CC, Chiu YH, Chen PJ, Hsu CJ, (2007) Prevalence and clinical features of the mitochondrial m.1555A>G mutation in Taiwanese patients with idiopathic sensorineural hearing loss and association of haplogroup F with low penetrance in three families. Ear Hear 28: 332-342.
25. Jackler RK, De La Cruz A, (1989) The large vestibular aqueduct syndrome. Laryngoscope 99: 1238-1242; discussion 1242-1233.
26. Chan DK, Schrijver I, Chang KW, (2010) Connexin-26-associated deafness: Phenotypic variability and progression of hearing loss. Genet Med 12: 174-181.
27. Kennedy C, Kimm L, Thornton R, Davis A, (2000) False positives in universal neonatal screening for permanent childhood hearing impairment. Lancet 356: 1903-1904.
28. Bess FH, Dodd-Murphy J, Parker RA, (1998) Children with minimal sensorineural hearing loss: prevalence, educational performance, and functional status. Ear Hear 19: 339-354.
29. Hick CB, Tharpe AM, (2002) Listening effort and fatigue in school-age children with and without hearing loss. J Speech Lang Hear Res 45: 573-584.
30. Davis JM, Elfenbein J, Schum R, Bentler RA, (1986) Effects of mild and moderate hearing impairments on language, educational, and psychosocial behavior of children. J Speech Hear Disord 51: 53-62.
31. Cone BK, Wake M, Tobin S, Poulakis Z, Rickards FW, (2010) Slight-mild sensorineural hearing loss in children: audiometric, clinical, and risk factor profiles. Ear Hear 31: 202-212.
32. McKay S, Gravel JS, Tharpe AM, (2008) Amplification considerations for children with minimal or mild bilateral hearing loss and unilateral hearing loss. Trends Amplif 12: 43-54.
33. Joint Committee on Infant Hearing (2007) Year 2007 position statement: Principles and guidelines for early hearing detection and intervention programs. Pediatrics 120: 898-921.
34. Tsukada K, Nishio S, Usami S, (2010) A large cohort study of GJB2 mutations in Japanese hearing loss patients. Clin Genet 78: 464-470.
35. Pollak A, Skorka A, Mueller-Malesinska M, Kostrzewa G, Kisiel B, et al. (2007) M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance. Am J Med Genet A 143A: 2534-2543.
36. Marlin S, Feldmann D, Blons H, Loundon N, Rouillon I, et al. (2005) GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients. Arch Otolaryngol Head Neck Surg 131: 481-487.
37. Hutchin T, Haworth I, Higashi K, Fischel-Ghodsian N, Stoneking M, et al. (1993) A molecular basis for human hypersensitivity to aminoglycoside antibiotics. Nucleic Acids Res 21: 4174-4179.
38. Young NM, Reilly BK, Burke L, (2011) Limitations of universal newborn hearing screening in early identification of pediatric cochlear implant candidates. Arch Otolaryngol Head Neck Surg 137: 230-234.
39. Dhondt JL, (2010) Expanded newborn screening: social and ethical issues. J Inherit Metab Dis 33: S211-217.
40. Levy N, (2002) Deafness, culture, and choice. J Med Ethics 28: 284-285.
41. Brunger JW, Murray GS, O'Riordan M, Matthews AL, Smith RJ, et al. (2000) Parental attitudes toward genetic testing for pediatric deafness. Am J Hum Genet 67: 1621-1625.
42. Withrow KA, Burton S, Arnos KS, Kalfoglou A, Pandya A, (2008) Consumer motivations for pursuing genetic testing and their preferences for the provision of genetic services for hearing loss. J Genet Couns 17: 252-260.
43. Lewis S, Curnow L, Ross M, Massie J, (2006) Parental attitudes to the identification of their infants as carriers of cystic fibrosis by newborn screening. J Paediatr Child Health 42: 533-537.
44. Lipan M, Ouyang X, Yan D, Angeli S, Du LL, et al. (2011) Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations. Laryngoscope 121: 811-814.
45. Morell RJ, Kim HJ, Hood LJ, Goforth L, Friderici K, et al. (1998) Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 339: 1500-1505.
46. Batsakis JG, Nishiyama RH, (1962) Deafness with sporadic goiter. Pendred's syndrome. Arch Otolaryngol 76: 401-406.
47. Coyle B, Reardon W, Herbrick JA, Tsui LC, Gausden E, et al. (1998) Molecular analysis of the PDS gene in Pendred syndrome. Hum Mol Genet 7: 1105-1112.
48. Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, et al. (2001) Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat 17: 403-411.
49. Pryor SP, Madeo AC, Reynolds JC, Sarlis NJ, Arnos KS, et al. (2005) SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. J Med Genet 42: 159-165.
50. Choi BY, Stewart AK, Madeo AC, Pryor SP, Lenhard S, et al. (2009) Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? Hum Mutat 30: 599-608.
51. Tsukamoto K, Suzuki H, Harada D, Namba A, Abe S, et al. (2003) Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. Eur J Hum Genet 11: 916-922.
52. Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, et al. (2003) Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet 40: 242-248.
53. Hutchin TP, Thompson KR, Parker M, Newton V, Bitner-Glindzicz M, et al. (2001) Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment. J Med Genet 38: 229-231.
54. Kupka S, Toth T, Wrobel M, Zeissler U, Szyfter W, et al. (2002) Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients. Hum Mutat 19: 308-309.
55. Usami S, Abe S, Akita J, Namba A, Shinkawa H, et al. (2000) Prevalence of mitochondrial gene mutations among hearing impaired patients. J Med Genet 37: 38-40.
56. Malik SG, Pieter N, Sudoyo H, Kadir A, Marzuki S, (2003) Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia. J Hum Genet 48: 480-483.
57. Bitner-Glindzicz M, Pembrey M, Duncan A, Heron J, Ring SM, et al. (2009) Prevalence of mitochondrial 1555A→G mutation in European children. N Engl J Med 360: 640-642.
58. Migliosi V, Modamio-Hoybjor S, Moreno-Pelayo MA, Rodriguez-Ballesteros M, Villamar M, et al. (2002) Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss. J Med Genet 39: 502-506.
59. Shearer AE, DeLuca AP, Hildebrand MS, Taylor KR, Gurrola J 2nd, et al. (2010) Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc Natl Acad Sci U S A 107: 21104-21109.
60. Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, Brownstein Z, Marlin S, et al. (2003) Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet 73: 1452-1458.
61. Rodriguez-Paris J, Schrijver I, (2009) The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis. Biochem Biophys Res Commun 389: 354-359.
62. Norris VW, Arnos KS, Hanks WD, Xia X, Nance WE, et al. (2006) Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness. Ear Hear 27: 732-741.