Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

American Journal of Medical Genetics, Part A

Volumn 155, Issue 6, 2011, Pages 1298-1313

  Rendtorff, Nanna D ^a   Lodahl, Marianne ^a   Boulahbel, Houda ^b   Johansen, Ida R ^a   Pandya, Arti ^c   Welch, Katherine O ^d   Norris, Virginia W ^d   Arnos, Kathleen S ^d   Bitner Glindzicz, Maria ^e   Emery, Sarah B ^f   Mets, Marilyn B ^g   Fagerheim, Toril ^h   Eriksson, Kristina ⁱ   Hansen, Lars ^a   Bruhn, Helene ^j   Möller, Claes ^k   Lindholm, Sture ^l   Ensgaard, Stefan ^m   Lesperance, Marci M ^f   Tranebjaerg, Lisbeth ^a,n  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^d GALLAUDET UNIVERSITY   (United States)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^g NORTHWESTERN UNIVERSITY   (United States)

^h UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

ⁱ Capio AB   (Sweden)

^j KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^k ÖREBRO UNIVERSITY   (Sweden)

^l KALMAR COUNTY HOSPITAL   (Sweden)

^m Department of Psychiatrics ^*  (Sweden)

ⁿ BISPEBJERG HOSPITAL   (Denmark)

more..

Author keywords

Autosomal dominant; Hearing loss; Mutation; Optic atrophy; WFS1; Wolfram syndrome

Indexed keywords

ADENINE; DYNAMIN; GENE PRODUCT; MITOCHONDRIAL DNA; UNCLASSIFIED DRUG; VALINE; WOLFRAMIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT OPTIC ATROPHY; CELL STRAIN HEK293; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GENE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC CONSERVATION; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OPA1 GENE; PATHOGENESIS; PRIORITY JOURNAL; SWEDEN; UNITED KINGDOM; UNITED STATES; WFS1 GENE; WILD TYPE; WOLFRAM SYNDROME;

BASE SEQUENCE; CELL LINE; DNA PRIMERS; FEMALE; GENE EXPRESSION PROFILING; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; GREAT BRITAIN; GTP PHOSPHOHYDROLASES; HAPLOTYPES; HEARING LOSS; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OPTIC ATROPHY; PEDIGREE; SEQUENCE ANALYSIS, DNA; SWEDEN; UNITED STATES; WOLFRAM SYNDROME;

EID: 79956194871     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33970     Document Type: Article

References (32)

1. Amati-Bonneau P, Guichet A, Olichon A, Chevrollier A, Viala F, Miot S, Ayuso C, Odent S, Arrouet C, Verny C, Calmels MN, Simard G, Belenguer P, Wang J, Puel JL, Hamel C, Malthiery Y, Bonneau D, Lenaers G, Reynier P. 2005. OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. Ann Neurol 58: 958-963.
2. Amati-Bonneau P, Milea D, Bonneau D, Chevrollier A, Ferre M, Guillet V, Gueguen N, Loiseau D, de Crescenzo MA, Verny C, Procaccio V, Lenaers G, Reynier P. 2009. OPA1-associated disorders: phenotypes and pathophysiology. Int J Biochem Cell Biol 41: 1855-1865.
3. Amati-Bonneau P, Odent S, Derrien C, Pasquier L, Malthiery Y, Reynier P, Bonneau D. 2003. The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene. Am J Ophthalmol 136: 1170-1171.
4. Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissiere A, Campos Y, Rivera H, de la Aleja JG, Carroccia R, Iommarini L, Labauge P, Figarella-Branger D, Marcorelles P, Furby A, Beauvais K, Letournel F, Liguori R, La MC, Montagna P, Liguori M, Zanna C, Rugolo M, Cossarizza A, Wissinger B, Verny C, Schwarzenbacher R, Martin MA, Arenas J, Ayuso C, Garesse R, Lenaers G, Bonneau D, Carelli V. 2008. OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain 131: 338-351.
5. Arnos KS, Welch KO, Tekin M, Norris VW, Blanton SH, Pandya A, Nance WE. 2008. A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart. Am J Hum Genet 83: 200-207.
6. Barrett TG, Bundey SE, Macleod AF. 1995. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 346: 1458-1463.
7. Bespalova IN, Van CG, Bom SJ, Brown DJ, Cryns K, DeWan AT, Erson AE, Flothmann K, Kunst HP, Kurnool P, Sivakumaran TA, Cremers CW, Leal SM, Burmeister M, Lesperance MM. 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.
8. Cryns K, Sivakumaran TA, Van den Ouweland JM, Pennings RJ, Cremers CW, Flothmann K, Young TL, Smith RJ, Lesperance MM, Van CG. 2003. Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. Hum Mutat 22: 275-287.
9. Doehn U, Hauge C, Frank SR, Jensen CJ, Duda K, Nielsen JV, Cohen MS, Johansen JV, Winther BR, Lund LR, Winther O, Taunton J, Hansen SH, Frodin M. 2009. RSK is a principal effector of the RAS-ERK pathway for eliciting a coordinate promotile/invasive gene program and phenotype in epithelial cells. Mol. Cell 35: 511-522.
10. Eiberg H, Hansen L, Kjer B, Hansen T, Pedersen O, Bille M, Rosenberg T, Tranebjaerg L. 2006. Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. J Med Genet 43: 435-440.
11. Fujikawa T, Noguchi Y, Ito T, Takahashi M, Kitamura K. 2010. Additional heterozygous 2507A>C mutation of WFS1 in progressive hearing loss at lower frequencies. Laryngoscope 120: 166-171.
12. Fukuoka H, Kanda Y, Ohta S, Usami S. 2007. Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese. J Hum Genet 52: 510-515.
13. Gomez-Zaera M, Strom TM, Rodriguez B, Estivill X, Meitinger T, Nunes V. 2001. Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. Mol Genet Metab 72: 72-81.
14. Hansen L, Eiberg H, Barrett T, Bek T, Kjaersgaard P, Tranebjaerg L, Rosenberg T. 2005. Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified. Eur J Hum Genet 13: 1275-1284.
15. Hofmann S, Philbrook C, Gerbitz KD, Bauer MF. 2003. Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product. Hum Mol Genet 12: 2003-2012.
16. Hogewind BF, Pennings RJ, Hol FA, Kunst HP, Hoefsloot EH, Cruysberg JR, Cremers CW. 2010. Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1. Mol Vis 16: 26-35.
17. Ke T, Nie SW, Yang QB, Liu JP, Zhou LN, Ren X, Liu JY, Wang Q, Liu MG. 2006. The G401D mutation of OPA1 causes autosomal dominant optic atrophy and hearing loss in a Chinese family. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 23: 481-485.
18. Larsson NG, Holme E, Kristiansson B, Oldfors A, Tulinius M. 1990. Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. Pediatr Res 28: 131-136.
19. Li C, Kosmorsky G, Zhang K, Katz BJ, Ge J, Traboulsi EI. 2005. Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation. Am J Med Genet A 138A: 208-211.
20. Mellersh CS, Pettitt L, Forman OP, Vaudin M, Barnett KC. 2006. Identification of mutations in HSF4 in dogs of three different breeds with hereditary cataracts. Vet Ophthalmol 9: 369-378.
21. Mets R, Emery S, Lesperance M, Mets M. 2010. Congenital Cataracts in Two Siblings with Wolfram Syndrome: a Newly Associated Finding. Ophthalmic Genet 31: 227-229.
22. Pandya A, Arnos KS, Xia XJ, Welch KO, Blanton SH, Friedman TB, Garcia SG, Liu MDX, 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.
23. Payne M, Yang Z, Katz BJ, Warner JE, Weight CJ, Zhao Y, Pearson ED, Treft RL, Hillman T, Kennedy RJ, Meire FM, Zhang K. 2004. Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1. Am J Ophthalmol 138: 749-755.
24. Puomila A, Huoponen K, Mantyjarvi M, Hamalainen P, Paananen R, Sankila EM, Savontaus ML, Somer M, Nikoskelainen E. 2005. Dominant optic atrophy: correlation between clinical and molecular genetic studies. Acta Ophthalmol Scand 83: 337-346.
25. Samuelson A. 1940. Familjärt uppträdande synnervsatrofi och dövhet. Nordisk Medicine (Hygiea) 6: 769-772.
26. Shimizu S, Mori N, Kishi M, Sugata H, Tsuda A, Kubota N. 2003. A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy. Am J Ophthalmol 135: 256-257.
27. Tessa A, Carbone I, Matteoli MC, Bruno C, Patrono C, Patera IP, De LF, Lorini R, Santorelli FM. 2001. Identification of novel WFS1 mutations in Italian children with Wolfram syndrome. Hum Mutat 17: 348-349.
28. Tranebjaerg L. 2008. Wolframin 1-related disease and hearing. In: Kóks S, Vasar E, editors. Emerging link between the emotional brain and endocrine pancreas, Chap 7, Research Signpost. pp 107-124.
29. Tranebjaerg L, Barrett T, Rendtorff ND. 2009. WFS1-related disorders. Gene reviews at genetests: medical genetics information resource [database online]. Seattle: University of Washington. 1997-2008.
30. Valero R, Bannwarth S, Roman S, Paquis-Flucklinger V, Vialettes B. 2008. Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene. Diabet Med 25: 657-661.
31. Young TL, Ives E, Lynch E, Person R, Snook S, MacLaren L, Cater T, Griffin A, Fernandez B, Lee MK, King MC. 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.
32. Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, Toscano A, Musumeci O, Valentino ML, Caporali L, Lamperti C, Tallaksen CM, Duffey P, Miller J, Whittaker RG, Baker MR, Jackson MJ, Clarke MP, Dhillon B, Czermin B, Stewart JD, Hudson G, Reynier P, Bonneau D, Marques W Jr, Lenaers G, McFarland R, Taylor RW, Turnbull DM, Votruba M, Zeviani M, Carelli V, Bindoff LA, Horvath R, Amati-Bonneau P, Chinnery PF. 2010. Multi-system neurological disease is common in patients with OPA1 mutations. Brain 133: 771-786.