Connexin 26 and connexin 30 mutations in children with nonsyndromic hearing loss.
Objectives/hypothesis: Mutations in the connexin 26 (Cx26) or gap junction beta 2 gene are the leading cause of hereditary nonsyndromic sensorineural hearing loss in Caucasians. The Cx26 coding region of 68 children with nonsyndromic sensorineural hearing loss was sequenced to determine the frequenc...
| Published in: | Laryngoscope Vol. 114; no. 4; pp. 607 - 612 |
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| Main Authors: | , , , , |
| Format: | research Journal Article |
| Published: |
Wiley-Blackwell
Apr2004
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| Online Access: | View this record in EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=146965810&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 146965810 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 0023852X 1GR jtl: Laryngoscope issn: 0023852X maglogo: Y pubinfo: dt: Apr2004 vid: 114 iid: 4 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 146965810 146965810 NLM15064611 146965810 NLM15064611 146965810 ppf: 607 ppct: 5 formats: tig: atl: Connexin 26 and connexin 30 mutations in children with nonsyndromic hearing loss. aug: au: Erbe, Christy B Harris, Kevin C Runge-Samuelson, Christina L Flanary, Valerie A Wackym, Phillip Ashley affil: Department of Otolaryngology and Communication Sciences, Medical College of Wisconsin, Milwaukee, Wisconsin, U.S.A sug: subj: Membrane Proteins Hearing Loss, Sensorineural Mutation Gene Expression Hearing Loss, Sensorineural Physiopathology Female Audiometry, Pure-Tone Methods Severity of Illness Indices Infant Adolescence Hearing Loss, Sensorineural Epidemiology Male Child Polymerase Chain Reaction Health Screening Methods Sequence Analysis Child, Preschool Human DNA Probes Validation Studies Comparative Studies Evaluation Research Multicenter Studies Infant: 1-23 months Adolescent: 13-18 years Child: 6-12 years Child, Preschool: 2-5 years Female Male ab: Objectives/hypothesis: Mutations in the connexin 26 (Cx26) or gap junction beta 2 gene are the leading cause of hereditary nonsyndromic sensorineural hearing loss in Caucasians. The Cx26 coding region of 68 children with nonsyndromic sensorineural hearing loss was sequenced to determine the frequency and type of Cx26 mutations in this population. Screening was also performed for a common connexin 30 (Cx30) or gap junction beta 6 mutation (del [GJB6-D13S1830]). Children also underwent audiological testing to determine whether any correlation exists between Cx26 mutations and severity of hearing loss.Study Design: In all, 68 children with nonsyndromic sensorineural hearing loss were screened for Cx26 and Cx30 mutations by polymerase chain reaction and direct sequencing.Methods: Genomic DNA was amplified by polymerase chain reaction using primers that flank the entire Cx26 coding region. Screening for the 342-kb Cx30 deletion was performed using primers that amplified the breakpoint junction of the deletion. The amplicons were then sequenced in both directions and analyzed for mutations. Audiometric testing, including pure-tone audiometry and auditory evoked brainstem response, was also performed to determine the degree of hearing loss.Results: Twenty-seven of 68 children tested had mutations in Cx26 with 35delG being the most prevalent. Ten additional Cx26 mutations were detected including a novel compound heterozygote. Two children were heterozygous for the Cx30 del (GJB6-D13S1830) mutation.Conclusion: Cx26 and Cx30 mutations were present in 41.2% of children tested in the study population. Audiometric data supported previous studies demonstrating a greater degree of hearing loss in subjects who are homozygous for the 35delG mutation. pubtype: Academic Journal doctype: research Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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