Molecular diagnosis of hearing loss

Current Protocols in Human Genetics

Volumn , Issue SUPPL.72, 2012, Pages

  Brown, Kerry K ^a,b   Rehm, Heidi L ^a,c  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c LABORATORY FOR MOLECULAR MEDICINE   (United States)

Author keywords

Connexin 26; Connexin 30; Deafness; GJB2; GJB6; Hearing loss

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN; PRIMER DNA; GJB6 PROTEIN, HUMAN;

ARTICLE; CLINICAL PROTOCOL; CONNEXIN 26 GENE; DNA MARKER; EXPERIMENTAL DESIGN; GENE; GENE DELETION; GENE EXPRESSION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC SCREENING; HEARING IMPAIRMENT; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; MOLECULAR DIAGNOSIS; PATHOGENICITY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROCESS DESIGN; SEQUENCE ANALYSIS; STRATEGIC PLANNING; VALIDITY; CHILD; GENETICS; HEARING LOSS; MUTATION; NUCLEOTIDE SEQUENCE; METHODOLOGY;

BASE SEQUENCE; CHILD; CONNEXINS; DNA PRIMERS; GENETIC SCREENING; HEARING LOSS; HUMANS; MUTATION; DNA MUTATIONAL ANALYSIS; GENETIC TESTING; POLYMERASE CHAIN REACTION;

EID: 84857477070     PISSN: 19348266     EISSN: 19348258     Source Type: Journal    
DOI: 10.1002/0471142905.hg0916s72     Document Type: Article

References (50)

1. [1000] Genomes Project: http://www.1000genomes.org/. Accessed: 2011.
2. ACMG, Genetics evaluation of congenital hearing loss expert panel. 2002. Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss. Genet Med. 4:162-171.
3. Azaiez, H., Yang, T., Prasad, S., Sorensen, J.L., Nishimura, C.J., Kimberling, W.J., and Smith, R.J. 2007. Genotype-phenotype correlations for SLC26A4-related deafness. Hum. Genet. 122:451-457.
4. Ballana, E., Ventayol, M., Rabionet, R., Gasparini, P., and Estivill, X. 2011. Connexins and deafness homepage: http://www.crg.es/deafness. Accessed: 2011.
5. Bespalova, I.N.,Van Camp, G., Bom, S.J., Brown, D.J., Cryns, K., DeWan, A.T., Erson, A.E., Flothmann, K., Kunst, H.P., Kurnool, P., Sivakumaran, T.A., Cremers, C.W., Leal, S.M., Burmeister,M., and Lesperance, M.M. 2001. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Hum. Mol. Genet. 10:2501-2508.
6. Cryns, K., Orzan, E., Murgia, A., Huygen, P.L., Moreno, F., Del Castillo, I., Chamberlin, G.P., Azaiez, H., Prasad, S., Cucci, R.A., Leonardi, E., Snoeckx, R.L., Govaerts, P.J., Van de Heyning, P.H., Van de Heyning, C.M., Smith, R.J., andVan Camp, G. 2004. A genotype-phenotype correlation for GJB2 (connexin 26) deafness. J. Med. Genet. 41:147-154. dbSNP. National Center for Biotechnology Information (http://www.ncbi.nlm.nih.gov/projects/SNP/). Accessed 2011.
7. De Kok, Y.J, Van der Maarel, S.M., Bitner-Glindzicz, M., Huber, I., Monaco, A.P., Malcolm, S., Pembrey, M.E., Ropers, H. H., and Cremers, F.P. 1995. Association between X-linkedmixed deafness and mutations in the POU domain gene POU3F4. Science 267:685-688.
8. De Kok, Y.J., Vossenaar, E.R, Cremers, C.W., Dahl, N., Laporte, J., Hu, L.J., Lacombe, D., Fischel-Ghodsian, N., Friedman, R.A., Parnes, L.S., Thorpe, P., Bitner-Glindzicz, M., Pander, H.J., Heilbronner, H., Graveline, J., Den Dunnen, J.T., Brunner, H.G., Ropers, H.H., and Cremers, F.P. 1996. Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. Hum. Mol. Genet. 5:1229-1235.
9. Del Castillo, I., Villamar, M., Moreno-Pelayo, M.A., Del Castillo, F.J., Alvarez, A., Telleria, D., Menendez, I., and Moreno, F. 2002. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N. Engl. J. Med. 346:243-249.
10. del Castillo, I., Moreno-Pelayo, M.A., Del Castillo, F.J., Brownstein, Z., Marlin, S., Adina, Q., Cockburn, D.J., Pandya, A., Siemering, K.R., Chamberlin, G.P., Ballana, E., Wuyts, W., Maciel-Guerra, A.T., Alvarez, A., Villamar, M., Shohat, M., Abeliovich, D., Dahl, H.H., Estivill, X., Gasparini, P., Hutchin, T., Nance, W.E., Sartorato, E.L., Smith, R.J., Van Camp, G., Avraham, K.B., Petit, C., and Moreno, F. 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.
11. del Castillo, F.J., Rodríguez-Ballesteros, M., Alvarez, A., Hutchin, T., Leonardi, E., De Oliveira, C.A., Azaiez, H., Brownstein, Z., Avenarius, M.R., Marlin, S., Pandya, A., Shahin, H., Siemering, K.R., Weil, D., Wuyts, W., Aguirre, L.A., Martín, Y., Moreno-Pelayo, M.A., Villamar, M., Avraham, K.B., Dahl, H.H., Kanaan, M., Nance, W.E., Petit, C., Smith, R.J., Van Camp, G., Sartorato, E.L., Murgia, A., Moreno, F., and del Castillo, I. 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. 42:588-594.
12. Delmaghani, S., Del Castillo, F.J., Michel, V., Leibovici, M., Aghaie, A., Ron, U., van Laer, L., Ben-Tal, N., Van Camp, G., Weil, D., Langa, F., Lathrop, M., Avan, P., and Petit, C. 2006. Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. Nat. Genet. 38:770-778.
13. Denoyelle, F., Lina-Granade, G., Plauchu, H., Bruzzone, R., Chaib, H., Levi-Acobas, F.,Weil, D., and Petit, C. 1998. Connexin 26 gene linked to a dominant deafness. Nature 393:319-320.
14. Denoyelle, F., Marlin, S., Weil, D., Moatti, L., Chauvin, P., Garabedian, E.N., and Petit, C. 1999. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: Implications for genetic counseling. Lancet 353:1298-1303.
15. Feldmann, D., Le Marechal, C., Jonard, L., Thierry, P., Czajka, C., Couderc, R., Ferec, C., Denoyelle, F., Marlin, S., and Fellmann, F. 2009. A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss. Eur. J. Med. Genet. 52:195-200.
16. Fischel-Ghodsian, N. 2003. Mitochondrial deafness. Ear Hear. 24:303-313.
17. Green, G.E., Scott, D.A.,McDonald, J.M.,Woodworth, G.G., Sheffield, V.C., and Smith, R.J. 1999. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA 281:2211-2216.
18. HGMD. Human Genetic Mutation Database (http://www.hgmd.org). Accessed 2011.
19. Hone, S.W. and Smith, R.J. 2002. Medical evaluation of pediatric hearing loss. Laboratory, radiographic, and genetic testing. Otolaryngol. Clin. North Am. 35:751-764.
20. Kenna, M.A., Rehm, H.L., Robson, C.D., Frangulov, A., McCallum, J., Yaeger, D., and Krantz, I.D. 2007. Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: who should be offered GJB2 testing? Am. J. Med. Genet. A 143A:1560-1566.
21. Kenneson, A., Van Naarden Braun, K., and Boyle, C. 2002. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review. Genet. Med. 4:258-274.
22. Kimberling, W.J., Hildebrand, H.S., Shearer, A.E., Jensen, M.L., Halder, J.A., Trzupek, K., Cohn, E.S., Weleber, R.G., Stone, E.M., and Smith, R.J. 2010. Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. Genet. Med. 12:512-516.
23. Lerer, I., Sagi, M., Ben-Neriah, Z., Wang, T., Levi, H., and Abeliovich, D. 2001. A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews. Hum. Mutat. 18:460.
24. Lim, L.H., Bradshaw, J.K., Guo, Y., Pilipenko, V., Madden, C., Ingala, D., Keddache, M., Choo, D.I., Wenstrup, R., and Greinwald, J.H.Jr. 2003. Genotypic and phenotypic correlations of DFNB1-related hearing impairment in theMidwestern United States. Arch. Otolaryngol. Head Neck Surg. 129:836-840.
25. LOVD. Leiden Open Variation Database (http://www.lovd.nl/2.0/). Accessed: 2011.
26. MORL. Molecular Otolaryngology and Research Laboratory (http://www.healthcare.uiowa.edu/ labs/pendredandbor/slcMutations.htm). Accessed: 2011.
27. Morle, L., Bozon, M., Alloisio, N., Latour, P., Vandenberghe, A., Plauchu, H., Collet, L., Edery, P., Godet, J., and Lina-Granade, G. 2000. A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. J. Med. Genet. 37:368-370.
28. NCHAM. National Center for Hearing Assessment and Management (http://www.infanthearing.org). Accessed: 2011.
29. Norris, V.W., Arnos, K.S., Hanks, W.D., Xia, X., Nance, W.E., and Pandya, A. 2006. Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness. Ear Hear. 27:732-741.
30. Orzan, E., Polli, R., Martella, M., Vinanzi, C., Leonardi, M., and Murgia, A. 1999. Molecular genetics applied to clinical practice: The Cx26 hearing impairment. Br. J. Audiol. 33:291-295.
31. Pallares-Ruiz, N., Blanchet, P., Mondain,M., Claustres, M., and Roux, A.F. 2002. A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect? Eur. J. Hum. Genet. 10:72-76.
32. Primignani, P., Castorina, P., Sironi, F., Curcio, C., Ambrosetti, U., and Coviello, D.A. 2003. A novel dominant missense mutation-D179N-in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss. Clin. Genet. 63:516-521.
33. Putcha, G.V., Bejjani, B.A., Bleoo, S., Booker, J.K., Carey, J.C., Carson, N., Das, S., Dempsey, M.A., Gastier-Foster, J.M., Greinwald, J.H. Jr., Hoffmann, M.L., Jeng, L.J., Kenna, M.A., Khababa, I., Lilley, M., Mao, R., Muralidharan, K., Otani, I.M., Rehm, H.L., Schaefer, F., Seltzer, W.K., Spector, E.B., Springer, M.A., Weck, K.E., Wenstrup, R.J., Withrow, S., Wu, B.L., Zariwala, M.A., and Schrijver, I. 2007. A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Genet. Med. 9:413-426.
34. Rehm, H.L. Partners Healthcare Laboratory for Molecular Medicine (http://pcpgm.partners.org/lmm/tests/hearing-loss/OtoChip). Accessed: 2011.
35. Rehm, H.L., Hernandez, A.L., Lerner-Ellis, J.P., White, E., Kenna, M.A., and Funke, B.H. 2011. The OtoChip, OtoGenome and OtoQuery Tests. Abstract #53. American College of Medical Genetics Conference, Vancouver, Canada.
36. Richards, C.S., Bale, S., Bellissimo, D.B., Das, S., Grody, W.W., Hegde, M.R., Lyon, E., Ward, B.E., and the Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee. 2008. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet. Med. 10:294-300.
37. Rodríguez-Ballesteros,M., delCastillo, F.J., Martin,Y., Moreno-Pelayo, M.A.,Morera, C., Prieto, F.,Marco, J.,Morant, A., Gallo-Teran, J., Morales-Angulo, C.,Navas, C., Trinidad, G., Tapia, M.C.,Moreno, F., and Del Castillo, I. 2003. Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF). Hum. Mutat. 22:451-456.
38. Rodríguez-Ballesteros, M., Reynoso, R., Olarte, M., Villamar, M., Morera, C., Santarelli, R., Arslan, E., Med́a, C., Curet, C., Völter, C., Sainz-Quevedo, M., Castorina, P., Ambrosetti, U., Berrettini, S., Frei, K., Tedín, S., Smith, J., Cruz Tapia, M., Cavallé, L., Gelvez, N., Primignani, P., Gómez-Rosas, E., Martín, M., Moreno-Pelayo, M.A., Tamayo, M., Moreno-Barral, J., Moreno, F., and Del Castillo, I. 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. 29:823-831.
39. Roizen, N.J. 2003. Nongenetic causes of hearing loss. Ment. Retard. Dev. Disabil. Res. Rev. 9:120-127.
40. Shahin, H., Walsh, T., Sobe, T., Lynch, E., King, M.C., Avraham, K.B., and Kanaan, M. 2002. Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East. Hum. Genet. 110:284-289.
41. Shearer, A.E., DeLuca, A.P., Hildebrand, M.S., Taylor, K.R., Gurrola, J. 2nd, Scherer, S., Scheetz, T.E., and Smith, R.J. 2010. Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc. Natl. Acad. Sci. U.S.A. 107:21104-21109.
42. Snoeckx, R.L., Huygen, P.L., Feldmann, D.,Marlin, S., Denoyelle, F.,Waligora, J.,Mueller-Malesinska,M., Pollak, A., Ploski, R., Murgia, A., Orzan, E., Castorina, P., Ambrosetti, U., Nowakowska-Szyrwinska, E., Bal, J., Wiszniewski, W., Janecke, A.R., Nekahm-Heis, D., Seeman, P., Bendova, O., Kenna, M.A., Frangulov, A., Rehm, H.L., Tekin, M., Incesulu, A., Dahl, H.H., du Sart, D., Jenkins, L., Lucas, D., Bitner-Glindzicz, M., Avraham, K.B., Brownstein, Z., del Castillo, I., Moreno, F., Blin, N., Pfister, M., Sziklai, I., Toth, T., Kelley, P.M., Cohn, E.S., Van Maldergem, L., Hilbert, P., Roux, A.F., Mondain, M., Hoefsloot, L.H., Cremers, C.W., Löppönen, T., Löppönen, H., Parving, A., Gronskov, K., Schrijver, I., Roberson, J., Gualandi, F., Martini, A., Lina-Granade, G., Pallares-Ruiz, N., Correia, C., Fialho, G., Cryns, K., Hilgert, N., Van de Heyning, P., Nishimura, C.J., Smith, R.J., and Van Camp, G. 2005. GJB2 mutations and degree of hearing loss: A multicenter study. Am. J. Hum. Genet. 77:945-957.
43. Tekin, M., Arnos, K.S., Xia, X.J., Oelrich, M.K., Liu, X.Z., Nance, W.E., and Pandya, A. 2001. W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness. Clin. Genet. 59:269-273.
44. Toriello, H.V., Reardon, W., and Gorlin, R.J. 2004. Hereditary Hearing Loss and Its Syndromes. Oxford University Press, Oxford.
45. UMD. Universal Mutation Database (http://www.umd.be/). Accessed: 2011.
46. Van Camp, G. and Smith, R.J.H. 2011. Hereditary Hearing Loss Homepage (http://hereditaryhearingloss.org). Accessed: 2011.
47. Varga, R., Kelley, P.M., Keats, B.J., Starr, A., Leal, S.M., Cohn, E., and Kimberling, W.J. 2003. Nonsyndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene. J. Med. Genet. 40:45-50.
48. Wilch, E., Azaiez, H., Fisher, R.A., Elfenbein, J., Murgia, A., Birkenhager, R., Bolz, H., da Silva-Costa, S.M., del Castillo, I., Haaf, T., Hoefsloot, L., Kremer, H., Kubisch, C., le Marechal, C., Pandya, A., Sartorato, E.L., Schneider, E., van Camp, G.,Wuyts,W., Smith, R.J., and Friderici, K.H. 2010. A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression. Clin. Genet. 78:267-274.
49. Yang, T., Vidarsson, H., Rodrigo-Blomqvist, S., Rosengren, S.S., Enerback, S., and Smith, R.J. 2007. Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am. J. Hum. Genet. 80:1055-1063.
50. Young, T.L., Ives, E., Lynch, E., Person, R., Snook, S., MacLaren, L., Cater, T., Griffin, A., Fernandez, B., Lee, M.K., King, M.C., and Cator, T. 2001. Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. Hum. Mol. Genet. 10:2509-2514.