Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity

Laryngoscope

Volumn 118, Issue 11, 2008, Pages 2014-2023

  Angeli, Simon I ^a  

^a UNIVERSITY OF MIAMI EAR INSTITUTE   (United States)

Author keywords

Cochlear implant; Computed tomography; Congenital HL; Connexin 26; Connexin 30; DFNB1; Genetic counseling; Genetic testing; GJB2; GJB6; Hispanics; HL; Motor development; Nonsyndromic recessive HL; Prevalence

Indexed keywords

CONNEXIN 26; CONNEXIN 30; DNA; GAP JUNCTION PROTEIN;

ADOLESCENT; AFRICAN AMERICAN; ARTICLE; AUDITORY REHABILITATION; CHILD; COHORT ANALYSIS; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DEMOGRAPHY; DEVELOPMENTAL STAGE; DFNB1 GENE; DISEASE COURSE; DISEASE SEVERITY; ETHNIC DIFFERENCE; ETHNIC GROUP; ETHNICITY; EUROPEAN AMERICAN; EXON; FAMILIAL DISEASE; FISHER EXACT TEST; GENE; GENE DELETION; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEARING IMPAIRMENT; HEARING LOSS; HETEROZYGOTE; HIGH RESOLUTION COMPUTER TOMOGRAPHY; HISPANIC; HUMAN; INNER EAR; MAJOR CLINICAL STUDY; MOTOR DEVELOPMENT; MUTATIONAL ANALYSIS; NONSYNDROMIC SENSORINEURAL HEARING LOSS; PERCEPTION DEAFNESS; PRACTICE GUIDELINE; PRIORITY JOURNAL; PROSPECTIVE STUDY; SCHOOL CHILD; ADULT; ALLELE; COMPARATIVE STUDY; ETHNOLOGY; FEMALE; FOLLOW UP; GENETICS; GENOTYPE; INFANT; MALE; METHODOLOGY; MUTATION; NEWBORN; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PROGNOSIS; PURE TONE AUDIOMETRY; RECESSIVE GENE;

ADOLESCENT; ADULT; ALLELES; AUDIOMETRY, PURE-TONE; CHILD; CHILD, PRESCHOOL; CONNEXINS; DISEASE PROGRESSION; DNA; ETHNIC GROUPS; FEMALE; FOLLOW-UP STUDIES; GENE FREQUENCY; GENES, RECESSIVE; GENETIC SCREENING; GENOTYPE; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PROGNOSIS; PROSPECTIVE STUDIES; TOMOGRAPHY, X-RAY COMPUTED;

EID: 56149120893     PISSN: 0023852X     EISSN: None     Source Type: Journal    
DOI: 10.1097/MLG.0b013e31817fb7ad     Document Type: Article

References (44)

1. Kelley PM, Harris DJ, Comer BC, et al. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DPNB1) hearing loss. Am J Hum Genet 1998;62:792-799.
2. Deyonelle F, Weil D, Maw MA, et al. Pre lingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 1997;6:2173-2177.
3. Zelante L, Gasparini P, Estivill X, et al. Connexin 26 mutations associated with the most common form of nonsyndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997;6:1605-1609.
4. del Castillo I, Moreno-Pelayo MA, del Castillo FJ, et al. 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 2003;73:1452-1458.
5. Snoeckx RL, Huygen PLM, Feldmann D, et al. GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet 2005;77:945-957.
6. Kenneson A, van Naarden Braun K, Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med 2002;4:258-274.
7. 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;281:2211-2216.
8. Morrell RJ, Kim HJ, Hood LJ, et al. Mutations in the connexin 26 (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 1998;339:1500-1505.
9. Ballana E, Ventayol M, Rabionet R, Gasparini P, Estivill X. Connexins and deafness homepage. Available at: http://davinci.crg.es/deafness. Accessed June, 2007.
10. Denoyelle F, Marlin S, Weil D. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implication for genetic counseling. Lancet 1999;353:1298-1303.
11. Conn ES, Kelley PM, Fowler TW, et al. Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1). Pediatrics 1999;103:546-550.
12. Green GE, Scott DA, McDonald JM, et al. Performance of cochlear implant recipients with GJB2-related deafness. Am J Med Genet 2002;109:167-170.
13. Sinnathuray AR, Toner JG, Clarke-Lyttle J, Geddis A, Patterson CC, Hughes AE. Connexin 26 (GJB2) generelated deafness and speech intelligibility after cochlear implantation. Otol Neurotol 2004;25:935-942.
14. 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;27:732-741.
15. Kenna MA, Rehm HI, Robson CD, et al. Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: who should be offered GJB2 testing? Am J Med Genet 2007;143 (Part A) :1560-1566.
16. Propst EJ, Blaser S, Stockley TL, Harrison RV, Gordon KA, Papsin BC. Temporal bone imaging in GJB2 deafness. Laryngoscope 2006;116:2178-2186.
17. American College of Medical Genetics. Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss. Expert panel. Genet Med 2002;4:162-171.
18. GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle, 1993-2007. Available at: http://www.genetests.org. Accessed August, 2007.
19. Robin NH, Dietz C, Arnold JE, Smith RJ. Pediatric otolaryngologists' knowledge and understanding of genetic testing for deafness. Arch Otolaryngol Head Neck Surg 2001;127:937-940.
20. Mazzoli M, van Camp G, Newton V, Giabini N, Declau F, Parving A. Recommendations for the description of genetic and audiological data for families with nonsyndromic hereditary hearing impairment. In: van Camp G, Smith RJH, eds. Hereditary Hearing Loss Homepage. Available at: http://webhost.ua.ac.be/hhh/. Accessed December, 2006.
21. Prezant TR, Agapian JV, Bohlman MC, et al. Mitochondrial ribosomal RNA mutation associated with both antibioticinduced and non-syndromic deafness. Nat Genet 1993;4:289-294.
22. Houseman MJ, Ellis LA, Pagnamenta A, et al. Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss. J Med Genet 2001;38:20-25.
23. Wu BL, Kenna M, Lip V, Irons M, Platt O. Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness. Am J Med Genet 2003;121:102-108.
24. Pandya A, Xia XJ, Erdenetungalag R, et al. Heterogenous point mutations in the mitochondrial tRNASer (UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. Am J Hum Genet 1999;65:1803-1806.
25. Purcell D, Johnson J, Fischbein N, Lalwani AK. Establishment of normative cochlear and vestibular measurements to aid in the diagnosis of inner ear malformations. Otolaryngol Head Neck Surg 2003;128:78-87.
26. First LR, Palfrey JS. The infant or young child with developmental delay. N Engl J Med 1994;330:478-483.
27. Connell S, Angeli S, Suarez H, Hodges AV, Balkany TJ, Liu XZ. Performance after cochlear implantation in DFNB1 patients. Otolaryngol Head Neck Surg 2007;137:596-602.
28. U. S. Bureau of Census, 2000. Profile of general demographic characteristics. Available at: http://www.labormarketinfo.com/index.htm. Accessed August 2007.
29. Pandya A, Arnos KS, Xia XJ, 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;5:295-303.
30. Estivill X, Fortina P, Surrey S, et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998;351:394-398.
31. Gasparini P, Rabionet R, Barbujani G, et al. Genetic Analysis Consortium of GJB2 35delG. High carrier frequency of the 35delG deafness mutation in European populations. Eur del Castillo I, Moreno-Pelayo MA, del J Hum Genet 2000;8:19-23.
32. van Laer L, Coucke P, Mueller RF, et al. A common founder for the 35delG GJB2 mutation in connexin 26 hearing impairment. J Med Genet 2001;38:515-518.
33. Carrasquillo MM, Zlotogora J, Barges S, Chakravarti A. Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. Hum Mol Genet 1997;6:2163-172.
34. Seeman P, Sakmaryova I. High prevalence of the IVS1 + 1G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of the GJB2. Clin Genet 2006;69:410-413.
35. Azaiez H, Chamberlin GP, Fischer SM, et al. GJB2: the spectrum of deafness-causing allele variants and their phenotype. Hum Mutat 2004;24:305-311.
36. Scott DA, Kraft ML, Carmi R, et al. Identification of mutations in the Connexin 26 gene that cause autosomal recessive non-syndromic hearing loss. Hum Mutat 1998;11:387-394.
37. Sobe T, Vreugde S, Shahin H, et al. The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population. Hum Genet 2000;106:50-57.
38. Rabionet R, Zelante L, Lopez-Bigas N, et al. Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. Hum Genet 2000;106:40-44.
39. Dent KM, Kenneson A, Palumbos JC, et al. Methodology of a multistate study of congenital hearing loss: preliminary data from Utah newborn screening. Am J Med Genet 2004;125C:28-34.
40. Green GE, Smith RJH, Bent JP, Cohn ES. Genetic testing to identify deaf newborns. JAMA 2000;284:1245.
41. Azaiez H, Smith RJ. In reference to temporal bone imaging in GJB2 deafness. Laryngoscope 2207;117:1127.
42. Todt I, Hennies HC, Basta D, Ernst A. Vestibular dysfunction of patients with mutations of connexin 26. NeuroReport 2005;16:1179-1181.
43. Jun. Al, McGuirt WT, Hinojosa R, Green GE, Fischel-Ghodsian N, Smith RJ. Temporal bone histopathology in connexin 26-related hearing loss. Laryngoscope 2000;110:269-275.
44. Suarez H, Angeli S, Suarez A, Rosales B, Carrera X, Alonso R. Balance sensory organization in children with profound hearing loss and cochlear implants. Int J Ped Otorhinolaryngol 2007;71:629-637.