AI Article Synopsis
- The study aimed to explore the genetic causes of non-syndromic hearing loss in a Chinese family with a maternal history of deafness.
- The researchers sequenced mitochondrial DNA and the GJB2 gene from blood samples of two affected sisters, finding a mutation in the mitochondrial gene but no issues with GJB2.
- The results indicated that individual genetic backgrounds can influence the severity and characteristics of hearing impairment within the same family.
Article Abstract
Objective: To investigate the molecular etiology of non-syndromic hearing impairment in two patients in a maternal inherited deafness Chinese family.
Methods: Peripheral blood specimens were collected and DNA templates extracted. The complete mitochondrial genomes and GJB2 gene were sequenced in an ABI 3100 Avant sequencer.
Results: The proband (III-5) and her elder sister (III-1) were found to carry the mtDNA 12SrRNA C1494T mutation. The GJB2 gene showed no mutations. The proband had the history of using aminoglycosides before hearing loss, and exhibited severe sensorineural hearing impairment; the proband's sister had no history of using aminoglycosides, and showed moderate sensorineural hearing impairment.
Conclusion: The molecular etiology of each individual patient in a family yaries with individual genetic background.
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