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Prevalence and Impact on Outcome

Lawrence R. Lustig, MD; Doris Lin, MD; Holly Venick, MAAA; Jan Larky, MAAA; Jennifer Yeagle, MAAA; Jill Chinnici, MA, CCC-A; Colleen Polite, MAAA; Anand N. Mhatre, PhD; John K. Niparko, MD; Anil K. Lalwani, MD

Arch Otolaryngol Head Neck Surg. 2004;130:541-546.

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.

From the Departments of Otolaryngology–Head & Neck Surgery, Johns Hopkins University, Baltimore, Md (Drs Lustig and Niparko and Mss Venick, Yeagle, and Chinnici), and University of California, San Francisco (Drs Lin, Mhatre, and Lalwani and Mss Larky and Polite). Drs Mhatre and Lalwani are now with the Department of Otolaryngology, New York University, New York. The authors have no relevant financial interest in this article.

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