Deafness genetic mutation spectrum in nonsyndromic hearing impairment associated with enlarged vestibular aqueducts / 中国康复理论与实践

ObjectiveTo investigate the deafness genetic mutation spectrum in nonsyndromic hearing impairment (NSHI) associated with enlarged vestibular aqueducts (EVA). MethodsFrom October, 2015 to August, 2016, 85 patients with NSHI from Hubei Yichang Special Education School were examined with temporal bone CT, and 20 deafness-related gene mutations in GJB2, GJB3, SLC26A4 and mtDNA 12S rRNA were detected with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. ResultsA total of 31 patients were found EVA with temporal bone CT. Compared with non-EVA patients, the proportion of deafness-related gene mutations was more in patients with EVA (χ2 = 11.160, P = 0.001), especially for c.919-2A>G mutation of SLC26A4 (χ2 = 23.870, P < 0.001). ConclusionThe deafness gene mutation spectrum is different in NSHI patients with or without EVA. It is needed to optimize genetic testing scheme for deafness for early diagnosis and intervention of NSHI associated with EVA.

Detection and risk analysis of hereditary deafness / 国际生物医学工程杂志

Hereditary hearing impairment is caused by genetic defects and is a common clinical disease. Since the lack of efficient treatment method, genetic counseling is more important in this field. It provides information about inherited disorders and focuses on assessment and interpretation of the risk for occurrence of genetic conditions in the family. Presented in this paper are classification of hereditary hearing impairment and methods to perform probability analysis using features of pathogenic genes and information of pedigree.

Study of mitochondrial DNA A1555G mutation among nonsyndromic hearing impairment in Chinese population / 中华检验医学杂志

Objective To study the prevalence of the mtDNA A1555G gene mutation in Chinese population with nonsyndromic hearing impairment.Methods PCR-RFLP,directional sequencing of PCR products were applied in 325 patients with nonsyndromic hearing impairment and 50 normal controls.Results The mutation rate of the mtDNA A1555G was 14.5% (47/325),28 of 47 cases were homozygosis,19 of 47 cases were heterozygosis.The same mutation was not detected in the control subjects.Conclusion The mutation rate of the mtDNA A1555G is relatively high in the Chinese NSHI patients,the mutation type includes both heterozygosis and homozygosis.