Analysis of common mutations of deafness-related genes in 2725 newborns / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To screen for common mutations of deafness-related genes in order to determine the carrier rate, types of mutation, and their relevance to hearing loss.</p><p><b>METHODS</b>For 4 deafness-related genes GJB2, GJB3, 12S rRNA and SLC26A4, 20 common mutations were screened among 2725 newborns from Shaoxing, Zhejiang by matrix-assisted laser desorption ionization-time of flight-mass spectrometry.</p><p><b>RESULTS</b>Among the 2725 newborns,149 (5.47%) were diagnosed with mutations, which included 84 (3.08%) with GJB2 mutations, 13 (0.48%) with GJB3 mutations, 49 (1.80%) with SLC26A4 mutations and 3 (0.11%) with 12S rRNA mutations. Fourteen mutational hotspots were identified. The most common mutations have included GJB2 c.235delC (65 cases), SLC26A4 IVS7-2A>G (34 cases), GJB2 c.299_300delAT (13 cases), GJB3 c.538C>T (7 cases), GJB2 c.176_191del16 (6 cases) and GJB3 c.547G>A (6 cases).</p><p><b>CONCLUSION</b>The detecting rate for deafness-related gene mutations has been relatively high. To broaden the screening spectrum may improve such rate. Besides GJB2, 12S rRNA, SLC26A4, GJB3 also features a high mutation rate in the region.</p>