Absence of COCH gene mutations in patients with superior semicircular canal dehiscence

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 1, 2012, Pages 251-253

  Crovetto, Miguel A ^a   Whyte, Jaime ^b   Sarasola, Esther ^a   Rodriguez, Jose A ^c   García Barcina, María J ^a  

^a HOSPITAL DE BASURTO   (Spain)

^b UNIVERSITY OF ZARAGOZA   (Spain)

^c UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; AUDIOGRAPHY; CASE REPORT; COCH GENE; COMPUTER ASSISTED TOMOGRAPHY; DNA SEQUENCE; FEMALE; GENE; GENE MUTATION; HEARING LOSS; HUMAN; INNER EAR MALFORMATION; LETTER; MALE; MASTOIDECTOMY; NUCLEOTIDE SEQUENCE; OSCILLOPSIA; OTOSCLEROSIS; POLYMERASE CHAIN REACTION; POU3F4 GENE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SLC26A4 GENE; STAPEDECTOMY; SUPERIOR SEMICIRCULAR CANAL DEHISCENCE; TULLIO PHENOMENON; VERTIGO;

ADULT; AGED; DNA MUTATIONAL ANALYSIS; EAR DISEASES; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENE DELETION; GENETIC TESTING; HEARING LOSS; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MIDDLE AGED; POU DOMAIN FACTORS; SEMICIRCULAR CANALS;

EID: 84355166208     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34377     Document Type: Letter

References (12)

1. Brandolini C, Modugno GC. 2011. Superior semicircular canal dehiscence and enlarged vestibular aqueduct. Int J Pediatr Otorhinolaryngol 75: 861-863.
2. Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ. 2001. Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat 17: 403-411.
3. Chi FL, Ren DD, Dai CF. 2010. Variety of audiologic manifestations in patients with superior semicircular canal dehiscence. Otol Neurotol 31: 2-10.
4. Crovetto M, Areitio E, Elexpuru J, Aguayo F. 2008. Transmastoid approach for resurfacing of superior semicircular canal dehiscence. Auris Nasus Larynx 35: 247-249.
5. Crovetto M, Whyte J, Rodriguez OM, Lecumberri I, Martinez C, Eléxpuru J. 2010. Anatomo-radiological study of the superior semicircular canal dehiscence radiological considerations of superior and posterior semicircular canals. Eur J Radiol 76: 167-172.
6. Hildebrand MS, Tack D, Deluca A, Hur IA, Van Rybroek JM, McMordie SJ, Muilenburg A, Hoskinson DP, Van Camp G, Pensak ML, Storper IS, Huygen PLM, Casavant TL, Smith RJH. 2009. Mutation in the COCH gene is associated with superior semicircular canal dehiscence. Am J Med Genet Part A 149A: 280-285.
7. Minor LB. 2003. Labyrinthine fistulae:pathobiology and management. Curr Opin Otolaryngol Head Neck Surg 11: 340-346.
8. Minor LB, Solomon D, Zinreich JS, Zee DS. 1998. Sound- and/or pressure-induced vertigo due to bone dehiscence of the superior semicircular canal. Arch Otolaryngol Head Neck Surg 124: 249-258.
9. Phelps PD, Reardon W, Pembrey M, Bellman S, Luxom L. 1991. X-linked deafness, stapes gushers and a distinctive defect of the inner ear. Neuroradiology 33: 326-330.
10. Santos S, Sgambatti L, Bueno A, Albi G, Suárez A, Domínguez MJ. 2010. Enlarged vestibular aqueduct syndrome. A review of 55 paediatric patients. Acta Otorrinolaringol Esp 61: 338-344.
11. Sobol SE, Teng X, Crenshaw EB III. 2005. Abnormal mesenchymal differentiation in the superior semicircular canal of brn4/POU3F4 knockout mice. Arch Otolaryngol Head Neck Surg 131: 41-45.
12. Vore AP, Chang EH, Hoppe JE, Butler MG, Forrester S, Schneider MC, Smith LL, Burke DW, Campbell CA, Smith RJ. 2005. Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness. Arch Otolaryngol Head Neck Surg 131: 1057-1063.