【摘 要】
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Objectives Non-syndromic hearing loss is the most common neurosensory deafness where majority of patients have largely diversified genetic defects.This study is to define the genetic profile of deafne
【机 构】
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Central Hospital of Handan Children's Hospital,
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Objectives Non-syndromic hearing loss is the most common neurosensory deafness where majority of patients have largely diversified genetic defects.This study is to define the genetic profile of deafness in Chinese population with potential to discover novel mutations.Methods A total of 227 segregating deaf students and 200 individuals with normal hearing were enrolled.With the Sanger sequencing chemistry, direct sequencing was performed on entire coding regions of GJB2, GJB3, SLC26A4 and mtDNA m.C1494T and m.A1555G.Results Direct sequencing analysis revealed that 53 (23.35%) of 227 patients carried at least 1 mutant allele in GJB2, 40 (17.62%) patients in SLC26A4, 5 (2.20%) patients in mtDNA A1555G, and 1 (0.44%) patient in mtDNA C1494T mutations.Four patients carried 3 unclassified mutations in GJB3 genes.Overall 38 mutant variants were detected in this cohort of patients, including 8 novel mutations in SLC26A4.The 8 novel variants were 6 missense substitutions (p.V163L, p.G222S, p.A456D, p.N457I, p.C466Y, p.F667L), 1 nonsense mutation (p.W472X) and 1 frameshift (p.Asn612Ilefs×23).Conclusions This study demonstrated high prevalence of GJB2, SLC26A4 and mtDNA A1555G mutations in Chinese patients with non-syndromic hearing loss and discovered 8 novel mutations in SLC26A4.Most of these novel mutations were predicted pathogenic variants.
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