Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations

Laryngoscope

Volumn 121, Issue 4, 2011, Pages 811-814

  Lipan, Michael ^a   Ouyang, Xiaomei ^a   Yan, Denise ^a   Angeli, Simon ^a   Du, Li Lin ^a   Liu, Xue Zhong ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

cochlear implant; computed tomography; Connexin 26; connexin 30; DFNB1; GJB2; GJB6; molecular genetic testing.; nonsyndromic sensorineural hearing loss

Indexed keywords

CONNEXIN 26;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; COMPARATIVE STUDY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HEARING LOSS; HEARING TEST; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; INNER EAR MALFORMATION; MAJOR CLINICAL STUDY; MALE; NONSYNDROMIC SENSORINEURAL HEARING LOSS; PATIENT ASSESSMENT; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SCHOOL CHILD;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ALLELES; AUDIOMETRY, PURE-TONE; CHILD; CHILD, PRESCHOOL; COCHLEAR IMPLANTS; CONNEXINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC TESTING; GENOTYPE; HEARING AIDS; HEARING LOSS, BILATERAL; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; INFANT; MALE; MIDDLE AGED; YOUNG ADULT;

EID: 79953101972     PISSN: 0023852X     EISSN: None     Source Type: Journal    
DOI: 10.1002/lary.21422     Document Type: Article

References (6)

1. Smith RJH, Van Camp G,. Nonsyndromic hearing loss and deafness, DFNB1. GeneReviews [serial online]. September 28, 1998; updated July 11, 1998. Available from: University of Washington, Seattle, WA. Accessed April 1, 2010.
2. Del Castillo FJ, Rodriguez-Ballesteros M, Alvarez A, et al. 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 2005; 42: 588-594. (Pubitemid 40993836)
3. Mazzoli M, Van Camp G, Newton V, et al. Recommendations for the description of genetic and audiological data for families with nonsyndromic hereditary hearing impairment. Hereditary Hearing Loss Homepage. Available at:. Accessed August 2010.
4. Angeli SI,. Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity. Laryngoscope 2008; 118: 2014-2023.
5. Cryns K, Orzan E, Murgia A, et al. A genotype-phenotype correlation for GJB2 (connexin 26) deafness. J Med Genet 2004; 41: 147-154. (Pubitemid 38337439)
6. Kochhar A, Angeli SI, Dave SP, Liu XZ,. Imaging correlation of children with DFNB1 vs non-DFNB1 hearing loss. Otolaryngol Head Neck Surg 2009; 140: 665-669.