The Intersection Between Meritocracy and Diversity, Equity, and Inclusion.

Embracing meritocracy and diversity, equity, and inclusion is critical to the future of otolaryngology-head and neck surgery. Understanding the intersection of these two concepts is particularly important. Meritocracy, a key principle utilized in academic medicine and surgery, rewards individual achievement. However, it can inadvertently result in a widening disparity between individuals who have access to environments promoting and facilitating meritocracy and those facing systemic structural barriers. Navigating the intersection of meritocracy and diversity, equity, and inclusion is a complex endeavor. However, it is crucial to understand that these concepts can coexist. With a balanced approach, we can appreciate individual merit while fostering diversity, equity, and inclusion. It requires a commitment to systemic change, ongoing evaluation, and collaboration to create environments where everyone has an equal opportunity to succeed and contribute unique talents and perspectives. Through these efforts, our specialty of otolaryngology-head and neck surgery will be stronger.

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 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.