Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

European Journal of Human Genetics

Volumn 17, Issue 4, 2009, Pages 517-524

  Hilgert, Nele ^a   Huentelman, Matthew J ^b   Thorburn, Ashley Q ^b   Fransen, Erik ^a   Dieltjens, Nele ^a   Mueller Malesinska, Malgorzata ^c   Pollak, Agnieszka ^c   Skorka, Agata ^c   Waligora, Jaroslaw ^d   Ploski, Rafal ^d   Castorina, Pierangela ^e   Primignani, Paola ^f   Ambrosetti, Umberto ^g   Murgia, Alessandra ^h   Orzan, Eva ⁱ   Pandya, Arti ^j   Arnos, Kathleen ^k   Norris, Virginia ^k   Seeman, Pavel ^l   Janousek, Petr ^m   Feldmann, Delphine ⁿ   Marlin, Sandrine ⁿ   Denoyelle, Françoise ⁿ   Nishimura, Carla J ^o   Janecke, Andreas ^p   Nekahm Heis, Doris ^p   Martini, Alessandro ^q   Mennucci, Elena ^q   Tóth, Timea ^r   Sziklai, Istvan ^r   del Castillo, Ignacio ^s   Moreno, Felipe ^s   Petersen, Michael B ^t   Iliadou, Vasiliki ^u   Tekin, Mustafa ^v   Incesulu, Armagan ^w   Nowakowska, Ewa ^x   Bal, Jerzy ^x   Van de Heyning, Paul ^y   Roux, Anne Françoise ^z   Blanchet, Catherine ^aa   Goizet, Cyril ^ab   Lancelot, Guenaëlle ^ac   Fialho, Graça ^ad   Caria, Helena ^ad   Liu, Xue Zhong ^ae   Xiaomei, Ouyang ^ae   Govaerts, Paul ^af   Grønskov, Karen ^ag   Hostmark, Karianne ^ah   Frei, Klemens ^ai   Dhooge, Ingeborg ^aj   Vlaeminck, Stephen ^aj   Kunstmann, Erdmute ^ak   Van Laer, Lut ^a   Smith, Richard J H ^o   Van Camp, Guy ^a   more..

^a UNIVERSITY OF ANTWERP   (Belgium)

^b TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

^c INSTITUTE OF PHYSIOLOGY AND PATHOLOGY OF HEARING   (Poland)

^d MEDICAL UNIVERSITY OF WARSAW   (Poland)

^e IRCCS   (Italy)

^f FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^g UNIVERSITY OF MILAN   (Italy)

^h UNIVERSITY OF PADOVA   (Italy)

ⁱ UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^j VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^k GALLAUDET UNIVERSITY   (United States)

^l CHARLES UNIVERSITY   (Czech Republic)

^m UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

ⁿ ARMAND TROUSSEAU HOSPITAL   (France)

^o UNIVERSITY OF IOWA   (United States)

^p INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^q UNIVERSITY HOSPITAL OF FERRARA   (Italy)

^r UNIVERSITY OF DEBRECEN   (Hungary)

^s HOSPITAL RAMÓN Y CAJAL   (Spain)

^t AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^u ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^v ANKARA UNIVERSITY   (Turkey)

^w ESKISEHIR OSMANGAZI UNIVERSITY   (Turkey)

^x INSTITUTE OF MOTHER AND CHILD   (Poland)

^y ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^z MONTPELLIER UNIVERSITY HOSPITAL   (France)

^aa SGMO   (France)

^ab UNIVERSITÉ DE BORDEAUX   (France)

^ac HÔPITAL PELLEGRIN   (France)

^ad UNIVERSITY OF LISBON   (Portugal)

^ae UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^af Ear Group   (Belgium)

^ag JOHN F KENNEDY INSTITUTE   (Denmark)

^ah BISPEBJERG HOSPITAL   (Denmark)

^ai MEDICAL UNIVERSITY OF VIENNA   (Austria)

^aj GHENT UNIVERSITY HOSPITAL   (Belgium)

^ak UNIVERSITY OF WÜRZBURG   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26;

ARTICLE; CONTROLLED STUDY; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; HEARING LOSS; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 62849118980     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.201     Document Type: Article

References (21)

1. Morton CC, Nance WE: Newborn hearing screening - a silent revolution. N Engl J Med 2006; 354: 2151-2164.
2. 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.
3. Gasparini P, Rabionet R, Barbujani G et al: High carrier frequency of the 35delG deafness mutation in European populations. Genetic analysis consortium of GJB2 35delG. Eur J Hum Genet 2000; 8: 19-23.
4. Snoeckx RL, Huygen PL, Feldmann D et al: GJB2 mutations and degree of hearing loss: A multicenter study. Am J Hum Genet 2005; 77 945-957.
5. Bryda EC, Kim HJ, Legare ME, Frankel WN, Noben-Trauth K: High-resolution genetic and physical mapping of modifier-of-deafwaddler (mdfw) and Waltzer (Cdh23v). Genomics 2001; 73: 338-342.
6. Ikeda A, Zheng QY, Zuberi AR, Johnson KR, Naggert JK, Nishina PM: Microtubule-associated protein 1A is a modifier of tubby hearing (moth1). Nat Genet 2002; 30: 401-405.
7. Gabriel HD, Jung D, Butzler C et al: Transplacental uptake of glucose is decreased in embryonic lethal connexin26-deficient mice. J Cell Biol 1998; 140: 1453-1461.
8. Bykhovskaya Y, Mengesha E, Wang D et al: Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3. Mol Genet Metab 2004; 83: 199-206.
9. Craig DW, Huentelman MJ, Hu-Lince D et al: Identification of disease causing loci using an array-based genotyping approach on pooled DNA. BMC Genomics 2005; 6: 138.
10. Pearson JV, Huentelman MJ, Halperin RF et al: Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide-polymorphism association studies. Am J Hum Genet 2007; 80: 126-139.
11. Steer S, Abkevich V, Gutin A et al: Genomic DNA pooling for whole-genome association scans in complex disease: Empirical demonstration of efficacy in rheumatoid arthritis. Genes Immun 2007; 8: 57-68.
12. Shifman S, Bhomra A, Smiley S et al: A whole genome association study of neuroticism using DNA pooling. Mol Psychiatry 2007; 13 302-312.
13. Dunckley T, Huentelman MJ, Craig DW et al: Whole-genome analysis of sporadic amyotrophic lateral sclerosis. N Engl J Med 2007; 357: 775-788.
14. GAbecasis GR, Cherny SS, Cookson WO, Cardon LR: GRR: graphical representation of relationship errors. Bioinformatics 2001; 17 742-743.
15. Curtis D, North BV, Gurling HM, Blaveri E, Sham PC: A quick and simple method for detecting subjects with abnormal genetic background in case-control samples. Ann Hum Genet 2002; 66: 235-244.
16. Lettre G, Lange C, Hirschhorn JN: Genetic model testing and statistical power in population-based association studies of quantitative traits. Genet Epidemiol 2007; 31: 358-362.
17. Macgregor S, Zhao ZZ, Henders A, Nicholas MG, Montgomery GW, Visscher PM: Highly cost-efficient genome-wide association studies using DNA pools and dense SNP arrays. Nucleic Acids Res 2008; 36: E35.
18. Abe S, Koyama K, Usami S, Nakamura Y: Construction and characterization of a vestibular-specific cDNA library using T7-based RNA amplification. J Hum Genet 2003; 48: 142-149.
19. Nemoto T, Tanida I, Tanida-Miyake E et al: The mouse APG10 homologue, an E2-like enzyme for Apg12p conjugation, facilitates MAP-LC3 modification. J Biol Chem 2003; 278: 39517-39526.
20. Ohsumi Y: Molecular dissectioT of autophagy: two ubiquitin-like systems. Nat Rev Mol Cell Biol 2001; 2: 211-216.
21. Libioulle C, Louis E, Hansoul S et al: Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. PLoS Genet 2007; 3: E58.