Genetic hearing impairment

Child's Nervous System

Volumn 31, Issue 4, 2015, Pages 515-519

  Ječmenica, Jovana ^a   Bajec Opančina, Aleksandra ^a   Ječmenica, Dragan ^b  

^a Institute for Mother and Child Health Care of Serbia Dr Vukan upi   (Serbia)

^b Institute for Forensic Medicine Milovan Milovanovi   (Serbia)

Author keywords

Exsanguinotransfusion; Hearing impairment; Hypoplasia; Mitochondrial; Sensorineural

Indexed keywords

AMINOGLYCOSIDE ANTIBIOTIC AGENT; MITOCHONDRIAL DNA;

ACROCEPHALOSYNDACTYLY; AUDITORY NERVOUS SYSTEM; BRANCHIOOTORENAL SYNDROME; CLINICAL EXAMINATION; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL DEAFNESS; CROUZON SYNDROME; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DRUG HYPERSENSITIVITY; FEMALE; GENETIC DISORDER; GENETIC SCREENING; GOLDENHAR SYNDROME; HEARING IMPAIRMENT; HUMAN; INNER EAR HEARING LOSS; INNER EAR MALFORMATION; KEARNS SAYRE SYNDROME; LONG QT SYNDROME; MALE; MANDIBULOFACIAL DYSOSTOSIS; MELAS SYNDROME; MERRF SYNDROME; NAGER ACROFACIAL DYSOSTOSIS; NEWBORN; NEWBORN SCREENING; NONSYNDROMIC AUTOSOMAL DOMINANT HEARING LOSS; NONSYNDROMIC AUTOSOMAL RECESSIVE HEARING LOSS; NONSYNDROMIC X CHROMOSOME LINKED HEARING LOSS; NUCLEAR MAGNETIC RESONANCE IMAGING; PENDRED SYNDROME; PERCEPTION DEAFNESS; PIERRE ROBIN SYNDROME; PREVALENCE; PRIORITY JOURNAL; REVIEW; SEX LINKAGE; SKULL DEVELOPMENT; STICKLER SYNDROME; SYNDROME; SYNDROME CHARGE; TOWNES BROCKS SYNDROME; USHER SYNDROME; WAARDENBURG SYNDROME; WOLFRAM SYNDROME; COMPLICATION; CONGENITAL MALFORMATION; GENETICS; HEARING LOSS; INNER EAR; SEX DIFFERENCE;

EAR, INNER; GENETIC TESTING; HEARING LOSS; HUMANS; MITOCHONDRIAL DISEASES; SEX FACTORS;

EID: 84925486078     PISSN: 02567040     EISSN: 14330350     Source Type: Journal    
DOI: 10.1007/s00381-015-2628-3     Document Type: Review

References (16)

1. Grundfast MK (2003) Hearing loss. In: Bluestone CD (ed) Pediatric otolaryngology, 4th edn. Elsevier Science, Philadelphia, pp 306–351
2. Hinchcliffe R (2003) The threshold of hearing. In: Luxon L (ed) Textbook of audiological medicine—clinical aspects of hearing and balance, 1st edn. Martin Dunitz Taylor Francis Group, London, pp 213–249
3. Nancy JR (1999) Etiology of hearing loss in children. Pediatr Clin N Am 46:49–64
4. Paparella MM, Schachern PA (1991) Sensorineural hearing loss in children—genetic. In: Paparella MM (ed) Otolaryngology, 2nd edn. W. B. Saunders Co, Philadelphia, pp 1579–1600
5. Davis CA, Moorjani P (2003) The epidemiology of hearing and balance disorders. In: Luxon L (ed) Textbook of audiological medicine—clinical aspects of hearing and balance, 1st edn. Martin Dunitz Taylor Francis Group, London, pp 89–101
6. Robert JN (2003) The assessment of hearing and middle ear function in children. In: Bluestone CD (ed) Pediatric otolaryngology, 4th edn. Elsevier Science, Philadelphia, pp 187–230
7. Newton V (2003) Disorders of the inner ear in children. In: Luxon L (ed) Textbook of audiological medicine—clinical aspects of hearing and balance, 1st edn. Martin Dunitz Taylor Francis Group, London, pp 393–407
8. Yu F, Han DY, Dai P, Kang DY, Zhang X, Liu X et al (2007) Mutation of GJB2 gene in Chinese nonsyndromic hearing impairment patients: analysis of 1190 cases. Natl Med J China 87:2814–2819
9. Yuan Y, Yu F, Wang G, Huang S, Yu R, Zhang X et al (2010) Prevalence of the GJB2 IVS1 + 1G > A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2. J Transl Med 8:127
10. Sun Q, Yuan HJ, Liu X et al (2008) Mutation analysis of GJB2 in Chinese population with DFNA. Chin Arch Otolaryngol Head Neck Surg 11:625–627
11. Del Castillo FJ, Rodríguez-Ballesteros M, Alvarez A, Hutchin T, Leonardi E, de Oliveira CA et al (2005) A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. J Med Genet 42:588–594
12. Orzan E, Murgia A (2007) Connexin 26 deafness is not always congenital. Int J Pediatr Otorhinolaryngol 71:501–507
13. Dai P, Yu F, Han B, Liu X, Wang G, Li Q et al (2009) GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment. J Transl Med 7:1–12
14. Gorlin RJ, Toriello HV, Cohen MM (eds) (1995) Hereditary hearing loss and its syndromes. Oxford University Press, New York, pp 9–21
15. Guan MX (2011) Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity. Mitochondrion 11:237–245
16. Lu J, Li Z, Zhu Y, Yang A, Li R, Zheng J et al (2010) Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss. Mitochondrion 10:380–390