TY - JOUR
T1 - GJB2 Gene Mutations in Cochlear Implant Recipients
T2 - Prevalence and Impact on Outcome
AU - Lustig, Lawrence R.
AU - Lin, Doris
AU - Venick, Holly
AU - Larky, Jan
AU - Yeagle, Jennifer
AU - Chinnici, Jill
AU - Polite, Colleen
AU - Mhatre, Anand N.
AU - Niparko, John K.
AU - Lalwani, Anil K.
PY - 2004/5
Y1 - 2004/5
N2 - Objective: To determine the prevalence of GJB2 gene mutations in patients undergoing cochlear implantation (CI) and their impact on rehabilitative outcome following implantation. Design: Prospective determination of GJB2 mutation by sequence analysis by denaturing high-performance liquid chromatography and its correlation with outcome following CI. Settings: Two tertiary academic medical centers. Patients: Subjects who have met the audiologic criteria and have undergone CI. Results: Of 77 cochlear implant recipients screened, 13 (18%) harbored a detectable sequence alteration in the GJB2 gene. Only 3 of these 13 patients had hearing loss clearly attributable to a biallelic GJB2 mutation. There were 2 patients with homozygous mutations, including a 35delG and a 167delT mutation, and a third with a compound heterozygous mutation. Of the remaining 10 patients, 8 had 1 deafness allele, while 2 had a normal polymorphism that was not believed to be implicated in the hearing loss. Six patients had the common 35delG mutation: 5 patients had heterozygous mutations, which are probably not related to the underlying hearing loss (a second deafness allele cannot be ruled out in these cases because of the screening methodology used), while 1 patient had a homozygous mutation, which was clearly implicated in the patient's deafness. Rehabilitative outcome among those with detectable sequence alterations, as well as the 3 patients with biallelic mutations, varied but were similar on average when compared with outcomes seen in our entire CI population. Conclusions: A large percentage of implant candidates harbor mutations or sequence alterations in the GJB2 gene, although only a small number of these changes are biallelic and a clear cause of the hearing loss. These results demonstrate that patients with GJB2-related deafness clearly benefit from CI.
AB - Objective: To determine the prevalence of GJB2 gene mutations in patients undergoing cochlear implantation (CI) and their impact on rehabilitative outcome following implantation. Design: Prospective determination of GJB2 mutation by sequence analysis by denaturing high-performance liquid chromatography and its correlation with outcome following CI. Settings: Two tertiary academic medical centers. Patients: Subjects who have met the audiologic criteria and have undergone CI. Results: Of 77 cochlear implant recipients screened, 13 (18%) harbored a detectable sequence alteration in the GJB2 gene. Only 3 of these 13 patients had hearing loss clearly attributable to a biallelic GJB2 mutation. There were 2 patients with homozygous mutations, including a 35delG and a 167delT mutation, and a third with a compound heterozygous mutation. Of the remaining 10 patients, 8 had 1 deafness allele, while 2 had a normal polymorphism that was not believed to be implicated in the hearing loss. Six patients had the common 35delG mutation: 5 patients had heterozygous mutations, which are probably not related to the underlying hearing loss (a second deafness allele cannot be ruled out in these cases because of the screening methodology used), while 1 patient had a homozygous mutation, which was clearly implicated in the patient's deafness. Rehabilitative outcome among those with detectable sequence alterations, as well as the 3 patients with biallelic mutations, varied but were similar on average when compared with outcomes seen in our entire CI population. Conclusions: A large percentage of implant candidates harbor mutations or sequence alterations in the GJB2 gene, although only a small number of these changes are biallelic and a clear cause of the hearing loss. These results demonstrate that patients with GJB2-related deafness clearly benefit from CI.
UR - http://www.scopus.com/inward/record.url?scp=2342664954&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=2342664954&partnerID=8YFLogxK
U2 - 10.1001/archotol.130.5.541
DO - 10.1001/archotol.130.5.541
M3 - Article
C2 - 15148174
AN - SCOPUS:2342664954
SN - 0886-4470
VL - 130
SP - 541
EP - 546
JO - Archives of Otolaryngology--Head and Neck Surgery
JF - Archives of Otolaryngology--Head and Neck Surgery
IS - 5
ER -