Compound heterozygosity for dominant and recessive GJB2 mutations: Effect on phenotype and review of the literature

American Journal of Medical Genetics, Part A

Volumn 143, Issue 14, 2007, Pages 1567-1573

  Welch, Katherine O ^a   Marin, Ruth S ^a   Pandya, Arti ^b   Arnos, Kathleen S ^a  

^a GALLAUDET UNIVERSITY   (United States)

^b VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

Author keywords

Compound heterozygosity; Connexin 26; Genes, dominant; Genes, recessive; GJB2

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; DISEASE SEVERITY; FAMILY; FEMALE; FRANCE; GENE; GENE FREQUENCY; GENE MUTATION; GJB2 GENE; HETEROZYGOSITY; HUMAN; MALE; NONVERBAL COMMUNICATION; PARENT; PERCEPTION DEAFNESS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RELATIVE; SCHOOL CHILD; SIBLING; UNITED STATES;

CONNEXINS; FAMILY HEALTH; FEMALE; FRANCE; GENE FREQUENCY; GENES, DOMINANT; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE;

EID: 34447289665     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31701     Document Type: Article

References (34)

1. Bruzzone R, Gomes D, Denoyelle E, Duval N, Perea J, Veronesi V, Weil D, Petit C, Gabellec MM, D'Andrea P, White TW. 2001. Functional analysis of a dominant mutation of human connexin26 associated with nonsyndromic deafness. Cell Commun Adhes 8:425-431.
2. Bygum A, Betz RC, Kragballe K, Steiniche T, Peeters N, Wuyts W, Nothen MM. 2005. KID syndrome: Report of a Scandinavian patient with connexin-26 gene mutation. Acta Derm Venereol 85:152-155.
3. Christiano AM, Anton-Lamprecht I, Amano S, Ebschner U, Burgeson RE, Uitto J. 1996. Compound heterozygosity of COL7A1 mutations in twins with dystrophic epidermolysis bullosa: A recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype. Am J Hum Genet 58:682-693.
4. Cohen-Salmon M, Ott T, Michel V, Hardelin JP, Perfettini I, Eybalin M, Wu T, Marcus DC, Wangemann P, Willecke K, Petit C. 2002. Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death. Curr Biol 12:1106-1111.
5. Denoyelle F, Lina-Granade G, Plauchu H, Bruzzone R, Chaib H, Levi-Acobas F, Weil D, Petit C. 1998. Connexin 26 gene linked to a dominant deafness. Nature 393:319-320.
6. Feldmann D, Denoyelle F, Blons H, Lyonnet S, Loundon N, Rouillon I, Hadj-Rabia S, Petit C, Couderc R, Garabedian E-N, Marlin S. 2005. The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. Am J Med Genet Part A 137A:225-227.
7. Hamelmann C, Amedofu GK, Albrecht K, Muntau B, Gelhaus A, Brobby GW, Horstmann RD. 2001. Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. Hum Mut 428:1-6.
8. Hammami-Hauasli N, Raghunath M, Kuster W, Bruckner-Tuderman L. 1998. Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations. J Invest Dermatol 111:1214-1219.
9. Heathcote K, Syrris P, Carter ND, Patton MA. 2000. A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). J Med Genet 37:50-51.
10. Kenneson A, Braun KVN, Boyle C. 2002. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review. Genet Med 4:258-274.
11. Loffler J, Nekahm D, Hirst-Stadlmann A, Gunther B, Menzel H-J, Utermann G, Janecke AR. 2001. Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. Eur J Hum Genet 9:226-230.
12. Maestrini E, Korge BP, Ocana-Sierra J, Calzolari E, Cambiaghi S, Scudder PM, Hovnanian A, Monaco AP, Munro CS. 1999. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Hum Mol Genet 8:1237-1243.
13. Martin PE, Coleman SL, Casalotti SO, Forge A, Evans WH. 1999. Properties of connexin26 gap junctional proteins derived from mutations associate with non-syndromal hereditary deafness. Hum Mol Genet 8:2369-2376.
14. Matos T, Caria H, Galhardo I, Dias O, Andrea M, Correia C, Fialho G. 2003. A novel M163L mutation in GJB2 gene associated with autosomal dominant isolated hearing loss. Eur J Hum Genet 11(Suppl 1):211.
15. McGrath JA, Gatalica B, Li K, Dunnill MGS, McMillan JR, Christiano AM, Eady RAJ, Uitto J. 1996. Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolyis bullosa and abnormal dentition. Am J Pathol 148:1787-1796.
16. Melchionda S, Bicego M, Marciano E, Franze A, Margutti M, Bortone G, Zelante L, Carella M, D'Andrea P. 2005. Functional characterization of a novel Cx26 (T55N) mutation associated to non-syndromic hearing loss. Biochem Biophys Res Commun 337:799-805.
17. Morle L, Bozon M, Alloisio N, Latour P, Vandenberghe A, Plauchu H, Collet L, Edery P, Godet J, 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.
18. Nakamura A, Yazaki M, Tokuda T, Hattori T, Ikeda S. 2005. A Japanese patient with familial Mediterranean fever associate with compound heterozygosity for pyrin variant E148Q/ M694I. Intern Med 44:261-265.
19. Norris VW, Arnos KS, Hanks WD, Xia X, Nance WE, 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.
20. Pandya A, Arnos KS, Xia XJ, Welch KO, Blanton SH, Friedman TB, Garcia Sanchez G, Liu XZ, Morell R, Nance WE. 2003. Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Genet Med 5:295-303.
21. Piazza V, Beltramello M, Menniti M, Colao E, Malatesta P, Argento R, Chiarella G, Gallo LV, Catalano M, Perrotti N, Mammano F, Cassandro E. 2005. Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss. Clin Genet 68: 161-168.
22. Primignani P, Castorina P, Sironi F, Curcio C, Ambrosetti U, Coviello DA. 2003. A novel dominant missense - D179N - in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss. Clin Genet 63:516-521.
23. Richard G, White TW, Smith LE, Bailey RA, Compton JG, Paul DL, Bale SJ. 1998. Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Hum Genet 103: 393-399.
24. Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynanen M, Jabs EW, Bale SJ, DiGiovanna JJ, Uitto J, Russell L. 2002. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichtyosis-deafness syndrome. Am J Hum Genet 70:1341-1348.
25. Richard G, Brown N, Lshida-Yamamoto A, Krol A. 2004. Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in G JB2. J Invest Dermatol 123:856-863.
26. Rouan F, White TW, Brown N, Taylor AM, Lucke TW, Paul DL, Munro CS, Uitto J, Hodgins MB, Richard G. 2001. Trans-dominant inhibition of connexin-43 by mutant connexin-26: Implications for dominant connexin disorders affecting epidermal differentiation. J Cell Sci 114: 2105-2113.
27. Shimizu H, Hammami-Hauasli N, Hatta N, Nishikawa T, Bruckner-Tuderman L. 1999. Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype. J Invest Dermatol 113:419-421.
28. Snoeckx RL, Huygen PLM, 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 AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HHM, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergrm L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CWRJ, Lopponen T, Lopponen 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 CJ, Smith RJH, Van Camp G. 2005. GJB2 mutations and degree of hearing loss: A multicenter study. JT Am J Hum Genet 77:945-957.
29. Tekin M, Arnos KS, Xia XJ, Oelrich MK, Liu XZ, Nance WE, Pandaya A. 2001. W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness. Clin Genet 59:269-273.
30. The connexin-deafness homepage. http://davinci.crg.es/deafness/index.php.
31. Uyhuner O, Tukel T, Baykal C, Eris H, Emiroglu M, Hafiz G, Ghanbari A, Baserer N, Yuksel-Apak M, Wollnik B. 2002. The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family. Clin Genet 62:306-309.
32. van Steensel MAM, Steijlen PM, Bladergroen RS, Hoefsloot EJ, van Ravenswaaij-Arts CM, van Geel M. 2004. A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation. J Invest Dermatol 123:291-293.
33. Yasukawa K, Sawamura D, McMillan JR, Nakamura H, Shimizu H. 2002. Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly. J Biol Chem 277:23670-23674.
34. Yotsumoto S, Hashiguchi T, Chen X, Ohtake N, Tomitaka A, Akamatsu H, Matsunaga K, Shiraishi S, Miura H, Adachi J, Kanzaki T. 2003. Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis- deafness syndrome. Br J Dermatol 148:649-653.