Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy

Molecular Vision

Volumn 16, Issue , 2010, Pages 650-664

  Meyer, Esther ^a   Michaelides, Michel ^b,c   Tee, Louise J ^a   Robson, Anthony G ^b,c   Rahman, Fatimah ^a   Pasha, Shanaz ^a   Luxon, Linda M ^d,e   Moore, Anthony T ^b,c   Maher, Eamonn R ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c MOORFIELDS EYE HOSPITAL   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MEMBRANE PROTEIN; TRANSMEMBRANE PROTEIN 126A; UNCLASSIFIED DRUG; TMEM126A PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE OPTIC ATROPHY; CASE REPORT; CONSANGUINITY; ELECTROPHYSIOLOGY; ELECTRORETINOGRAPHY; EVOKED VISUAL RESPONSE; FEMALE; GENE MAPPING; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GENOMICS; HEREDITARY OPTIC ATROPHY; HOMOZYGOSITY; HUMAN; MALE; MICROARRAY ANALYSIS; MICROSATELLITE MARKER; NONSENSE MUTATION; OPHTHALMOSCOPY; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; VESTIBULOCOCHLEAR NERVE DISEASE; VISUAL ACUITY; VISUAL SYSTEM EXAMINATION; AUDITORY THRESHOLD; EVOKED BRAIN STEM AUDITORY RESPONSE; EYE FUNDUS; GENETIC LINKAGE; GENETICS; MOLECULAR GENETICS; NERVE FIBER; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PERCEPTION DEAFNESS; PHYSIOLOGY; PURE TONE AUDIOMETRY; RECESSIVE GENE; RETINA NERVE CELL; SPONTANEOUS OTOACOUSTIC EMISSION; STOP CODON;

ADOLESCENT; AUDIOMETRY, PURE-TONE; AUDITORY DISEASES, CENTRAL; AUDITORY THRESHOLD; BASE SEQUENCE; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EVOKED POTENTIALS, AUDITORY, BRAIN STEM; EVOKED POTENTIALS, VISUAL; FEMALE; FUNDUS OCULI; GENES, RECESSIVE; HUMANS; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; NERVE FIBERS; OPTIC ATROPHIES, HEREDITARY; OTOACOUSTIC EMISSIONS, SPONTANEOUS; PEDIGREE; RETINAL NEURONS; YOUNG ADULT;

EID: 77952300184     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (19)

1. Chevrollier A, Guillet V, Loiseau D, Gueguen N, de Crescenzo MA, Verny C, Ferre M, Dollfus H, Odent S, Milea D, Goizet C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P. Hereditary optic neuropathies share a common mitochondrial coupling defect. Ann Neurol 2008; 63: 794-8. [PMID: 18496845]
2. Votruba M, Aijaz S, Moore AT. A review of primary hereditary optic neuropathies. J Inherit Metab Dis 2003; 26: 209-27. [PMID: 12889662]
3. Barbet F, Gerber S, Hakiki S, Perrault I, Hanein S, Ducroq D, Tanguy G, Dufier JL, Munnich A, Rozet JM, Kaplan J. A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q. Eur J Hum Genet 2003; 11: 966-71. [PMID: 14508503]
4. Hanein S, Perrault I, Roche O, Gerber S, Khadom N, Rio M, Boddaert N, Jean-Pierre M, Brahimi N, Serre V, Chretien D, Delphin N, Fares-Taie L, Lachheb S, Rotig A, Meire F, Munnich A, Dufier JL, Kaplan J, Rozet JM. TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. Am J Hum Genet 2009; 84: 493-8. [PMID: 19327736]
5. Forli F, Mancuso M, Santoro A, Dotti MT, Siciliano G, Berrettini S. Auditory neuropathy in a patient with mitochondrial myopathy and multiple mtDNA deletions. J Laryngol Otol 2006; 120: 888-91. [PMID: 16719954]
6. Rodríguez-Ballesteros M, del Castillo FJ, Martín Y, Moreno-Pelayo MA, Morera C, Prieto F, Marco J, Morant A, Gallo-Terán J, Morales-Angulo C, Navas C, Trinidad G, Tapia MC, Moreno F, del Castillo I. Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF). Hum Mutat 2003; 22: 451-6. [PMID: 14635104]
7. Delmaghani S, del Castillo FJ, Michel V, Leibovici M, Aghaie A, Ron U, Van Laer L, Ben-Tal N, Van Camp G, Weil D, Langa F, Lathrop M, Avan P, Petit C. Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. Nat Genet 2006; 38: 770-8. [PMID: 16804542]
8. Ceranić B, Luxon LM. Progressive auditory neuropathy in patients with Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 2004; 75: 626-30. [PMID: 15026512]
9. Yu-Wai-Man P, Elliott C, Griffiths PG, Johnson IJ, Chinnery PF. Investigation of auditory dysfunction in Leber hereditary optic neuropathy. Acta Ophthalmol 2008; 86: 630-3. [PMID: 18070226]
10. Bahmad F Jr, Merchant SN, Nadol JB Jr, Tranebjaerg L. Otopathology in Mohr-Tranebjaerg syndrome. Laryngoscope 2007; 117: 1202-8. [PMID: 17471106]
11. Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Bach M, International Society for Clinical Electrophysiology of Vision. ISCEV Standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol 2009; 118: 69-77. [PMID: 19030905]
12. Holder GE, Brigell MG, Hawlina M, Meigen T. Vaegan, Bach M, International Society for Clinical Electrophysiology of Vision. ISCEV standard for clinical pattern electroretinography-2007 update. Doc Ophthalmol 2007; 114: 111-6. [PMID: 17435967]
13. British Society of Audiology. Recommended procedure for Tympanometry. Br J Audiol 1992; 26: 255-7. [PMID: 1446189]
14. Cohen M, Prasher D. The value of combining auditory brainstem responses and acoustic reflex threshold measurements in neuro-otological diagnosis. Scand Audiol 1988; 17: 153-62. [PMID: 3264620]
15. Kemp DT, Ryan S, Bray P. A guide to the effective use of Otoacoustic Emissions. Ear Hear 1990; 11: 93-105. [PMID: 2340969]
16. Carelli V, La Morgia C, Valentino ML, Barboni P, Ross-Cisneros FN, Sadun AA. Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders. Biochim Biophys Acta 2009; 1787: 518-28. [PMID: 19268652]
17. Hudson G, Amati-Bonneau P, Blakely EL, Stewart JD, He L, Schaefer AM, Griffiths PG, Ahlqvist K, Suomalainen A, Reynier P, McFarland R, Turnbull DM, Chinnery PF, Taylor RW. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain 2008; 131: 329-37. [PMID: 18065439]
18. Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissière 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 Morgia C, Montagna P, Liguori M, Zanna C, Rugolo M, Cossarizza A, Wissinger B, Verny C, Schwarzenbacher R, Martín MA, 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: 338-51. [PMID: 18158317]
19. Hilson JB, Merchant SN, Adams JC, Joseph JT. Wolfram syndrome: a clinicopathologic correlation. Acta Neuropathol 2009; 118: 415-28. [PMID: 19449020]