The Genetic Features Analysis of DIAPH3 Gene in Patients with Auditory Neuropathy Spectrum Disorder
ZHANG Jiao
ZHANG Qiujing
QI Yue
LAN Lan
YU Lan
LI Na
WANG Dayong
WANG Qiuju
Abstract：Objective to identify DIAPH3 mutations in Chinese patients with auditory neuropathy spectrum disor-der(ANSD) and to investigate the clinical genetic characteristics of ANSD associated with DIAPH3. Methods We enrolled 125 patients with auditory neuropathy spectrum disorder diagnosed in our hospital from 2003 to 2013. The vein blood of the patients who provided an informed consent was collected and DNA was extracted. We designed 30 pairs of PCR primers ac-cording to the 29 exons of the DIAPH3 gene. Polymerase chain reaction (PCR) and direct sequencing was performed to iden-tify mutations in the DIAPH3 gene. We screened the mutations of DIAPH3 gene in the 125 ANSD patients, and also screened the novel mutations in 100 unrelated individuals with normal hearing. Finally, we analyzed the clinical features and genetic characteristics of the ANSD patients with DIAPH3 gene mutations. Results In this study, 22 variations in the exons of DI?APH3 gene were totally found in the 125 ANSD patients, including 7 possible pathogenic mutation(c.1425G>A, c.1749T>C, c.2605A>C,c.-44C>G,c.-179G>A,c.-27C>T and c.*196A>T). Conclusion These 7 variations didn’t exist in other ANSD patients, and the regions of the seven mutations are highly conserved across vertebrate apecies, so we considered that these seven mutations may had relationships with ANSD.
Keywords：Auditory neuropathy spectrum disorderAuditory neuropathyDIAPH3 gene
Publication Date：2015-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 229-233 )