Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1

Molecular Vision

Volumn 16, Issue , 2010, Pages 26-35

  Hogewind, Barend F T ^a   Pennings, Ronald J E ^a   Hol, Frans A ^a   Kunst, Henricus P M ^a   Hoefsloot, Elisabeth H ^a   Cruysberg, Johannes R M ^a   Cremers, Cor W R J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; GLUCOSE; MEMBRANE PROTEIN; MITOCHONDRIAL DNA; OPTIC ATROPHY PROTEIN 1; UNCLASSIFIED DRUG; WOLFRAMIN; WOLFRAMIN PROTEIN;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUDIOGRAPHY; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; COLOR VISION DEFECT; COLOR VISION TEST; EVOKED VISUAL RESPONSE; EYE EXAMINATION; FEMALE; GLUCOSE BLOOD LEVEL; HEARING IMPAIRMENT; HUMAN; MALE; MISSENSE MUTATION; OPHTHALMOSCOPY; OPTIC NERVE DISEASE; PERCEPTION DEAFNESS; PERIMETRY; PHENOTYPE; PRIORITY JOURNAL; AMINO ACID SEQUENCE; CHEMISTRY; DIABETES MELLITUS; DOMINANT GENE; FAMILY; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; HEARING TEST; MIDDLE AGED; MOLECULAR EVOLUTION; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE; VISUAL SYSTEM FUNCTION;

ADULT; AGED, 80 AND OVER; AMINO ACID SEQUENCE; BASE SEQUENCE; CONSERVED SEQUENCE; DIABETES MELLITUS; DNA MUTATIONAL ANALYSIS; EVOLUTION, MOLECULAR; FAMILY; FEMALE; GENES, DOMINANT; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HEARING LOSS, SENSORINEURAL; HEARING TESTS; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; OCULAR PHYSIOLOGICAL PHENOMENA; OPTIC NERVE DISEASES; PEDIGREE; PHENOTYPE; YOUNG ADULT;

EID: 77949318655     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (36)

1. Barrett TG, Bundey AR, Fielder PA. Good. Optic atrophy in Wolfram (DIDMOAD) syndrome. Eye 1997; 11:882-888. [PMID: 9537152]
2. Newman NJ. Hereditary optic neuropathies: from the mitochondria to the optic nerve. Am J Ophthalmol 2005; 140:517-523. [PMID: 16083845]
3. Li C, Kosmorsky G, Zhang K, Katz BJ, Ge J, Traboulsi EI. Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation. Am J Med Genet 2005; 138A: 208-211. [PMID: 16158427]
4. Shimizu S, Mori N, Kishi M, Sugata H, Tsuda A, Kubota N. A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy. Am J Ophthalmol 2003; 135:256-257. [PMID: 12566046]
5. Amati-Bonneau P, Guichet A, Olichon A, Chevrollier A, Viala F, Miot S, Ayuso C, Odent S, Arrouet C, Verny C, Calmels M-N, Simard G, Belenguer P, Wang J, Puel J-L, Hamel C, Malthiery Y, Bonneau D, Lenaers G, Reynier P. OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. Ann Neurol 2005; 58:958-963. [PMID: 16240368]
6. Payne M, Yang Z, Katz BJ, Warner JEA, Weight CJ, Zhao Y, Pearson ED, Treft RL, Hillman T, Kennedy RJ, Meire FM, Zhang K. Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1. Am J Ophthalmol 2004; 138:749-755. [PMID: 15531309]
7. Eiberg H, Hansen L, Kjer B, Hansen T, Pedersen O, Bille M, Rosenberg T, Tranebjærg L. Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. J Med Genet 2006; 43:435-440. [PMID: 16648378]
8. Valéro R, Bannwarth S, Roman S, Paquis-Flucklinger V, Vialettes B. Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene. Diabet Med 2008; 25:657-661. [PMID: 18544103]
9. Mikelberg FS, Parfitt CM, Swindale NV, Graham SL, Drance SM, Gosine R. Ability of the Heidelberg Retina Tomograph to detect early glaucomatous visual field loss. J Glaucoma 1995; 4:242-247. [PMID: 19920681]
10. Kjer P. Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families. Acta Ophthalmol Suppl 1959; 164:1-147. [PMID: 13660776]
11. Eliott D, Traboulsi EI, Maumenee IH. Visual prognosis in autosomal dominant optic atrophy (Kjer type). Am J Ophthalmol 1993; 115:360-367. [PMID: 8442497]
12. Wolfram DJ, Wagener HP. Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clin Proc 1938; 1:715-718.
13. Deutman AF, Baarsma GS. Optic atrophy and deafmutism, dominantly inherited. Doc Ophthalmol Proc Ser 1977; 17:145-154.
14. Liguori M, La Russa A, Manna I, Andreoli V, Caracciolo M, Spadafora P, Cittadella R, Quattrone A. A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation. J Neurol 2008; 255:127-129. [PMID: 18204809]
15. Amati-Bonneau P, Valentina ML, Reynier P, Gallardo ME, Bornstein B, Boissière A, Campos Y, Rivera H, González de la Aleja J, Caroccia R, Iommarini L, Labauge P, Figarella-Branger D, Marcorelles P, Furby A, Beauvais K, Letournel F, Liguori R, La Morgia C, Montagna P, Liguori M, Zanna C, Rugolo M, Cossarizza A, Wissinger B, Verny C, Schwarzenbacher R, Angel Martin M, Arenas J, Ayuso C, Garesse R, Lenaers G, Bonneau D, Carelli V. OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain 2008; 131:338-351. [PMID: 18158317]
16. Ferraris S, Clark S, Garelli E, Davidzon G, Moore SA, Kardon RH, Bienstock RJ, Longley MJ, Mancuso M, Gutiérrez Ríos P, Hirano M, Copeland WC, DiMauro S. Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1. Arch Neurol 2008; 65:125-131. [PMID: 18195150]
17. Wei QP, Zhou X, Yang L, Sun YH, Zhou J, Li G, Jiang R, Lu F, Qu J, Guan MX. The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss. Biochem Biophys Res Commun 2007; 357:910-916. [PMID: 17452034]
18. Hofmann S, Bezold R, Jaksch M, Kaufhold P, Obermaier-Kusser B, Gerbitz KD. Analysis of the mitochondrial DNA from patients with Wolfram (DIDMOAD) syndrome. Mol Cell Biochem 1997; 174:209-213. [PMID: 9309689]
19. Inoue H, Tanizawa Y, Wasson J, Behn P, Kalidas K, Bernal-Mizrachi E, Mueckler M, Marshall H, Donis-Keller H, Crock P, Rogers D, Mikuni M, Kumashiro H, Higashi K, Sobue G, Oka Y, Permutt MA. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet 1998; 20:143-148. [PMID: 9771706]
20. Strom TM, Hörtnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, Gerbitz KD, Meitinger T. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum Mol Genet 1998; 7:2021-2028. [PMID: 9817917]
21. Khanim F, Kirk J, Latif F, Barrett TG. WFS1/wolframin mutations, Wolfram syndrome, and associated diseases. Hum Mutat 2001; 17:357-367. [PMID: 11317350]
22. Fukuoka H, Kanda Y, Ohta S, Usami S. Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese. J Hum Genet 2007; 52:510-515. [PMID: 17492394]
23. Zenteno JC, Ruiz G, Pérez-Cano HJ, Camargo M. Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations. Mol Vis 2008; 14:1353-1357. [PMID: 18660851]
24. Bespalova IN, Van Camp G, 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. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Hum Mol Genet 2001; 10:2501-2508. [PMID: 11709537]
25. Vanderbilt Hereditary Deafness Study Group. Dominantly inherited low-frequency hearing loss. Arch Otolaryngol 1968; 88:242-250. [PMID: 5663381]
26. Kunst H, Marres H, Huygen P, Van Camp G, Joosten F, Cremers C. Autosomal dominant non-syndromal lowfrequency sensorineural hearing impairment linked to chromosome 4p16 (DFNA14): statistical analysis of hearing threshold in relation to age and evaluation of vestibulo-ocular functions. Audiology 1999; 38:165-173. [PMID: 10437687]
27. Lesperance MM, Hall JW, Bess FH, Fukushima K, Jain PK, Ploplis B, San Agustin TB, Skarka H, Smith RJ, Wills M, Wilcox ER. A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3. Hum Mol Genet 1995; 4:1967-1972. [PMID: 8595423]
28. Pennings RJE, Bom SJH, Cryns K, Flothmann K, Huygen PLM, Kremer H, Van Camp G, Cremers CWRJ. Progression of lowfrequency sensorineural hearing loss (DFNA6/14-WFS1). Arch Otolaryngol Head Neck Surg 2003; 129:421-426. [PMID: 12707188]
29. Pennings RJE, Huygen PLM, Van Camp G, Cremers CWRJ. A review of progressive phenotypes in nonsyndromicautosomal dominant hearing impairment. Audiol Med 2003; 1:47-55.
30. Yamamoto H, Hofmann S, Hamasaki DI, Yamamoto H, Kreczmanski P, Schmitz C, Parel JM, Schmidt-Kastner R. Wolfram syndrome 1 (WFS1) protein expression in retinal ganglion cells and optic nerve glia of the cynomolgus monkey. Exp Eye Res 2006; 83:1303-1306. [PMID: 16928372]
31. Kawano J, Tanizawa Y, Shinoda K. Wolfram syndrome 1 (Wfs1) gene expression in the normal mouse visual system. J Comp Neurol 2008; 510:1-23. [PMID: 18613120]
32. Takeda K, Inoue H, Tanizawa Y, Matsuzaki Y, Oba J, Watanabe Y, Shinoda K, Oka Y. WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. Hum Mol Genet 2001; 10:477-484. [PMID: 11181571]
33. Cryns K, Thys S, Van Laer L, Oka Y, Pfister M, Van Nassauw L, Smith RJ, Timmermans JP, Van Camp G. The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells. Histochem Cell Biol 2003; 119:247-256. [PMID: 12649740]
34. Hildebrand MS, Sorensen JL, Jensen M, Kimberling WJ, Smith RJ. Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1. Am J Med Genet 2008; 146A:2258-2265. [PMID: 18688868]
35. Plantinga RF, Pennings RJE, Huygen PLM, Bruno R, Eller P, Barrett TG, Vialettes B, Paquis-Fluklinger V, Lombardo F, Cremers CWRJ. Hearing impairment in genotyped Wolfram syndrome patients. Ann Otol Rhinol Laryngol 2008; 117:494-500. [PMID: 18700423]
36. Hilson JB, Merchant SN, Adams JC, Joseph JT. Wolfram syndrome: a clinicopathologic correlation. Acta Neuropathol 2009; 118:415-428. [PMID: 19449020]