Hearing loss is the most common sensory disorder in humans. The causes that lead todeafness or difficulty of hearing are varied and largely genetic. In the context of thisMSc thesis, we evaluated and assessed the use of multiplex ligation dependent probeamplification (MLPA) as a complementary diagnostic method in the diagnosis ofsensorineural hearing loss. Using the P461-A1 DIS and P461-B1 probe sets from MRCHolland, which are associated with DIS, DFNB16 and DFNB22 diseases, we detectedcopy number changes in the STRC, CATSPER2 and OTOA genes. Of the 42 samplesexamined, for which the standard diagnostic procedure for sensorineural hearing lossdetected no pathogenic variants, MLPA detected copy number changes in six patients.The results show that the MLPA method is suitable for use in clinical practice as it isaccurate, simple to execute from a technological perspective and justified both in termsof high-quality results and affordability. Early identification of the genetic aetiology ofhearing loss is crucial for timely clinical intervention, auditory rehabilitation andappropriate genetic counselling.
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