Abstract
About 1 in 1000 children are affected by severe deafness at birth or during early childhood (i. e. the prelingual period). A further 1 in 1000 children become deaf before adulthood. Most of the studies assessing the genetic causes of deafness address the prelingual forms as these are the most severe, and currently about 60% of these cases are attributed to genetic causes.
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References
Abdelhak S, Kalatzis V, Heilig R, et al (1997) A human homologue of the Drosophilaeyes absent gene underlies branchio-oto-renal (BOR) Syndrome and identifies a novel gene family. Nat Genet 15: 157 – 164
Arcand P, Desrosiers M, Dube J, et al (1991) The large vestibular aqueduct Syndrome and sensorineural hearing loss in the pediatric population. J Otolaryngol 20: 247 – 250
Astuto LM, Weston MD, Carney CA, et al (2000) Genetic heterogeneity of Usher Syndrome: analysis of 151 families with Usher type 1. Am J Hum Genet 67: 1569 – 1574
Bamiou DE, Phelps P, Sirimanna T (2000) Temporal bone computed tomography findings in bilateral sensorineural hearing loss. Arch Dis Child 82: 257 – 260
Barrett TG, Bundey SE (1997) Wolfram (DIDMOAD) Syndrome. J Med Genet 34: 838 – 841
Barrett TG, Scott-Brown M, Seiler A, et al (2000) The mitochondrial genome in Wolfram Syndrome. J Med Genet 37: 463 – 466
Bork JM, Peters LM, Riazuddin S, et al (2001) Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cad- herin-like gene CDH23. Am J Hum Genet 68: 26 – 37
Braun J, Lerner A, Gershoni-Baruch R (1991) The temporal bone in the Johanson-Blizzard Syndrome. A CT study. Pediatr Radiol 21: 580 – 583
Bitner-Glindzicz M, Turnpenny P, Hoglund P, et al (1995) Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3. Hum Mol Genet 4: 1467 – 1469
Chan K, Furman JMR, Eelkema EA, Kamerer DB (1998) Familial sensorineural loss: a correlative study of audiologic, radiographic and vestibular findings. Ann Otol Rhinol Lar- yngol 100: 620 – 625
Cobb SR, Shohat M, Mehringer CM, et al (1988) Computed tomography of the temporal bone in achondroplasia. Am J Neuroradiol 9: 1195 – 1199
Committee on Genetics of the American Academy of Paediatrics (1995) Health supervision for children with achondroplasia. Pediatrics 95: 443 – 51
Cremers CRWJ (1996) The X-linked recessive progressive mixed hearing loss syndrome with perilymphatic gusher during stapes surgery (DFN3). In: Martini A, Read A, Stephens D (eds) Genetics and hearing impairment. Singular, San Diego, pp 236 – 243
Denoyelle F, Marlin S, Weil D, et al (1999) Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. Lancet 353: 1298 – 1303
Dhooge I, Lemmerling M, Lagache M, et al (1998) Otological manifestations of the CHARGE association. Ann Otol Rhinol Laryngol 107: 935 – 941
Dixon MJ (1995) Treacher Collins Syndrome. J Med Genet 32: 806 – 808
Engels S, Kohlhase J, McGaughren J (2000) A SALL1mutation causes a branchio-oto-renal syndrome-like phenotype. J Med Genet 37: 458 – 460
Ensink RJH, Cremers CWRJ, Brunner HG (1997) Congenital conductive hearing loss in the lacrimoauriculodentodigital Syndrome. Arch Otolaryngol Head Neck Surg 123: 97 – 99
Evans DGR, Birch JM, Ramsden RT (1999) Paediatric presentation of type 2 neurofibromatosis. Arch Dis Child 81: 496 – 499
Everett LA, Green ED (1999) A family of mammalian anion transporters and their involvement in human genetic diseases. Hum Mol Genet 8: 1883 – 1891
Ferraz FG, Nunes L, Ferraz ME, et al (1989) Townes-Brock Syndrome. Report of a case and review of the literature. Ann Genet 32: 120 – 123
Flinter F (1997) Alport’s Syndrome. J Med Genet 34: 326 – 330
Fraser GR (1965) Association of congenital deafness with goitre (Pendred’s Syndrome). Ann Hum Genet 28: 201 – 248
Gong Y, Krakow D, Marcelino J, et al (1999) Heterozygous mutations in the gene encoding noggin affect joint morphogenesis. Nat Genet 21: 302 – 304
Gorlin RJ, Toriello HV, Cohen MM (1995) Hereditary hearing loss and its Syndromes. Oxford University Press, New York, Oxford (Oxford monographs on medical genetics no 28 )
Guyoy JP, Vibert D (1999) Patients with CHARGE association: a model to study saccular function in the human. Ann Otol Rhinol Laryngol 108: 151 – 155
Higashi K, Matsuki C, Sarashina N (1992) Aplasia of posterior semicircular canal in Waardenburg Syndrome type II. J Otolaryngol 21: 262 – 264
Hollway GE, Suthers GK, Battese KM, et al (1998) Deafness due to Pro250Arg mutation of FGFR3. Lancet 351: 877 – 878
Hunter AGW, Bankier A, Rogers JG, et al (1998) Medical complications of achondroplasia: a multicentre patient review. J Med Genet 35: 705 – 712
Igawa HH, Nishizawa N, Sugihara T, et al (2000) Inner ear abnormalities in Kabuki make-up Syndrome: report of three cases. Am J Med Genet 92: 87 – 89
Irie K, Ogata H, Mitsdome A (1990) CT findings of the temporal bones in Waardenburg’s Syndrome. No To Hattatsu 22: 241 – 6
Jabs EW (1998) Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates. Clin Genet 53: 79 – 86
Karet FE, Finberg KE, Nelson RD, et al (1999) Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet 21: 84 – 90
Koehler CM, Leuenberger D, Merchant S, et al (1999) Human deafness dystonia Syndrome is a mitochondrial disease. Proc Natl Acad Sei U S A 96: 2141 – 2146
Kohkhase J, Wischermann A, Reichenbach H, et al (1998) Mutations in the SALL1 putative transcription factor gene cause Townes-Brock Syndrome. Nat Genet 18: 81 – 83
Kovach MJ, Lin J-P, Boyadjiev S, et al (1999) A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. Am J Hum Genet 64: 1580 – 1593
Lemmerling M, Dhooge I, Mollet P, et al (1998) CT of the temporal bone in the CHARGE association. Neuroradiology 40: 462 – 465
Lemmerling MM, Vanzieleghem BD, Dhooge IJ, et al (1999) The lacrimo-auriculo-dento-digital (LADD) Syndrome: temporal bone CT findings. J Comput Assist Tomogr 23: 362 – 364
Liu X-Z, Hope C, Liang CY, et al (1999) A mutation (2314delG) in the Usher Syndrome type IIA gene: high prevalence and phenotypic Variation. Am J Hum Genet 64: 1221 – 1225
Morgan D, Bailey M, Phelps P, et al (1993) Ear-nose-throat abnormalities in the CHARGE association. Arch Otolaryngol Head Neck Surg 119: 49 – 54
Nemansky J, Hageman MJ (1975) Tomographie findings in the inner ears of 24 patients with Waardenburg’s Syndrome. Am J Roentgenol Radium Ther Nucl Med 124: 250 – 255
Petit C (1996) Genes responsible for human hereditary deafness: symphony of a thousand. Nat Genet 14: 385 – 391
Phelps PD, Poswillo D, Lloyd GAS (1981) The ear deformities in mandibulofacial dysostosis (Treacher Collins Syndrome). Clin Otolaryngol 6: 15 – 28
Phelps PD, Lloyd GAS, Poswillo DE (1983) The ear deformities in craniofacial microsomia and oculo-auriculo-vertebral dysplasia. J Laryngol Otol 97: 995 – 1005
Phelps PD, Reardon W, Pembrey ME, et al (1991) X-linked deafness, stapes gusher and a distinet defect of the inner ear. Neuroradiology 33: 326
Phelps PD, Coffey RA, Trembath RC, et al (1998) Radiological manifestations of the ear in Pendred Syndrome. Clin Radiol 53: 268 – 273
Powell CM, Michaelis RC (1999) Townes-Brock Syndrome. J Med Genet 36: 89 – 93
Pron G, Galloway C, Armstrong D, et al (1993) Ear malformation and hearing loss in patients with Treacher Collins Syndrome. Cleft Palate Craniofac J 30: 97 – 103
Read AP, Newton VE (1997) Waardenburg Syndrome. J Med Genet 34: 656 – 665
Reardon W, Coffey R, Chowdhury T, et al (1999) Prevalence, age of onset and natural history of thyroid disease in Pendred Syndrome. J Med Genet 36: 595 – 598
Reardon WO, Mahoney CF, Trembath R, et al (2000) Enlarged vestibular aqueduet - a radiological marker of Pendred Syndrome and mutation of the PDS gene. QJM 93: 99 – 104
Rossmiller DR, Pasic TR (1994) Hearing loss in Townes-Brock syndrome. Otolaryngol Head Neck Surg 111: 175 – 180
Russell-Eggitt IM, Clayton PT, Coffey R, et al (1998) Alstrom Syndrome; report of 22 cases and literature review. Ophthalmology 105: 1274 – 1280
Ryan AK, Goodship JA, Wilson DI, et al (1997) Spectrum of clinical features associated with interstitial chromosome 22qll deletions: a European collaborative study. J Med Genet 34: 798 – 804
Schaefer GB, Bodensteiner JB, Thompson JN, et al (1998) Volumetrie neuroimaging in Usher Syndrome: evidence of global involvement. Am J Med Genet 79: 1 – 4
Schweitzer VG, Clack TD (1984) Waardenburg’s Syndrome: a case report with CT scanning and cochleovestibular evaluation. Int J Pediatr Otorhinolaryngol 7: 311 – 322
Scott DA, Wang R, Kreman TM, et al (2000) Functional differences of the PDS gene produet are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). Hum Mol Genet 9: 1709 – 1715
Smith SD, Harker LA (1998) Single gene influences on radiologically-detectable malformations of the inner ear. J Commun Disord 31: 391 – 410
Smith SD, Kelley PM, Kenyon JB, et al (2000) Tietz Syndrome (hypopigmentation/deafness) caused by mutation of MITF. J Med Genet 37: 446 – 448
Snead M, Yates JRW (1999) Clinical and molecular genetics of Stickler Syndrome. J Med Genet 36: 353 – 359
Steel KP. (2000) New interventions in hearing impairment. Br Med J 320: 622 – 5
Temple IK. (1989) Stickler’s Syndrome. J Med Genet 26: 119 – 126
Touraine RL, Attie-Bitach T,Manceau E,et al (2000) Neurological phenotype in Waardenburg Syndrome type 4 correlates with novel SOXIOtruncating mutations and expression in the developing brain. Am J Hum Genet 66: 1496 – 1503
Van Camp G, Smith RJH. (2000) Maternally inherited hearing impairment. Clin Genet 57: 409 – 414
Wilson CJ, Vellodi A (2000) Autosomal recessive Osteopetrosis: diagnosis, management and outcome. Arch Dis Child 83: 449 – 452
Young ID (1998) Achondroplasia: a case of neglect ? Lancet 352: 1950 – 1951
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Fryer, A. (2003). Syndromes Associated with Hereditary Deafness. In: King, S.J., Boothroyd, A.E. (eds) Pediatric ENT Radiology. Medical Radiology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-59367-3_4
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DOI: https://doi.org/10.1007/978-3-642-59367-3_4
Publisher Name: Springer, Berlin, Heidelberg
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