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

American Journal of Medical Genetics

Volumn 121 A, Issue 2, 2003, Pages 102-108

  Wu, Bai Lin ^a,b   Kenna, Margaret ^b   Lip, Va ^a   Irons, Mira ^b   Platt, Orah ^a,b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

Congenital hearing loss; Connexin 26 (GJB2); Connexin 30 (GJB6); Deafness; Digenic mutations; Molecular diagnostics

Indexed keywords

CONNEXIN 26; CONNEXIN 30; GAP JUNCTION PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CHILD; CHILDHOOD DISEASE; DFNB1 GENE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HEARING IMPAIRMENT; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SEQUENCE ANALYSIS;

EID: 0042694853     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20210     Document Type: Article

References (24)

1. Carrasquillo MM, Zlotogora J, Barges S, Chakravarti A. 1997. Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: Implications for genetic studies in isolated populations. Hum Mol Genet 6:2163-2172.
2. Cremers CW, Marres HA, Van Rijn PM. 1991. Nonsyndromal profound genetic deafness in childhood. Ann N Y Acad Sci 630:191-196.
3. Dahl E, Manthey D, Chen Y, Schwarz HJ, Chang YS, Lalley PA, Nicholson BJ, Willecke K. 1996. Cloning and functional expression of mouse connexin-30, a gap junction gene highly expressed in adult brain and skin. [published erratum appears in J Biol Chem 271:26444] J Biol Chem 271:17903-17910.
4. del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Telleria D, Menendez I, Moreno F. 2002. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med 346(4):243-249.
5. Denoyelle FD, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl HH, Middleton A, Houseman MJ, Dode C, Marlin S, Boulila-ElGaied A, Grati M, Ayadi H, BenArab S, Bitoun P, Lina-Granade G, Godet J, Mustapha M, Loiselet J, El-Zir E, Aubois A, Joannard A, Petit C, et al. 1997. Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 6:2173-2177.
6. Gabriel H, Kupsch P, Sudendey J, Winterhager E, Jahnke K, Lautermann J. 2001. Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population. Hum Mutat 17(6):521-522.
7. Goodenough DA, Jeffrey AG, Paul DL. 1996. Connexins, connexons, and intercellular communication. Ann Rev Biochem 65:475-502.
8. Grifa A, Wagner CA, D'Ambrosio L, Melchionda S, Bernardi F, Lopez-Bigas N, Rabionet R, Arbones M, Monica MD, Estivill X, Zelante L, Lang F, Gasparini P. 1999. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nat Genet 23:16-18.
9. Guilford P, Ayadi H, Blanchard S, Chaïb H, Le Paslier D, Weissenbach J, Petit C. 1994. A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. Hum Mol Genet 3:989-993.
10. Kelley PM, Abe S, Askew JW, Smith SD, Usami S, Kimberling WJ. 1999. Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: Molecular cloning, tissue-specific expression, and assignment to chromosome 13q12. Genomics 62:172-176.
11. Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM. 1997. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 387:80-83.
12. Kikuchi T, Kimura RS, Paul DL, Adams JC. 1995. Gap junctions in the rat cochlea: Immunohistochemical and ultrastructural analysis. Anat Embryol (Berl) 191:101-118.
13. Lautermann J, Frank H, Jahnke K, Traub O, Winterhager E. 1999. Developmental expression patterns of connexin-26 and -30 in the rat cochlea. Dev Genet 25:306-311.
14. Lerer I, Sagi M, Ben-Neriah Z, Wang T, Levi H, 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(5):460.
15. Morton NE. 1991. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 630:16-31.
16. Nance WE, and The Newborn Hearing Subcommittee of the Public Health Genetics Committee. 2000. Statement of the American College of Medical Genetics on universal newborn hearing screening. Genet Med 2(2):149-150.
17. NCBI: National Center for Biotechnology Information. Accessed July 1, 2002. http://www.ncbi.nlm.nih.gov/. Accession numbers for the Cx30 (GJB6) gene [AL355984; AJ005585; NM_006783; NT_009917]; for the Cx26 (GJB2) gene [M86849; NM_004004].
18. OMIM: Online Mendelian Inheritance in Man. Accessed July 1, 2002. http:// www.ncbi.nlm.nih.gov/Omim/. Accession numbers for the Cx26 (GJB2) gene [MIM *121011]; for the Cx30 (GJB6) gene [MIM *604418]; for the DFNB1 locus [MIM #220290].
19. Pallares-Ruiz N, Blanchet P, Mondain M, Claustres M, Roux AF. 2002. A large deletion including most of GJB6 in recessive nonsyndromic deafness: A digenic effect? Eur J Hum Genet 10:72-76.
20. Rabionet R, Gasparini P, Estivill X. Connexins and deafness homepage. Accessed July 1, 2002. http://www.iro.es/deafness/.
21. Simon AM, Goodenough DA. 1998. Diverse functions of vertebrate gap junctions. Trends Cell Biol 8:477-483.
22. Van Camp G, Smith RJH. Hereditary hearing loss home page. Accessed July 1, 2002. http://www.uia.ac.be/dnalab/hhh/.
23. Wu B-L, Lindeman N, Lip V, Adams A, Amato RS, Cox G, Irons M, Kenna M, Korf B, Raisen J, Platt O. 2002. Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. Genet Med 4:279-288.
24. Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, Mila M, Monica MD, Lutfi J, Shohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P. 1997. Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 6:1605-1609.