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Causative Mutation Novel - Crossref

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Last Updated: 25 October 2021

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Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families

Abstract \ n \ nBackground \ nHereditary hearing loss is one of the most common heterogeneous problems, and hereditary versions that can create hearing loss have been identified in over sixty genes. Approaches \ nEighty well-known hearing loss genetics were selected and all at once sequenced by targeted next-generation sequencing in 8 Korean families with autosomal dominant non-syndromic sensorineural hearing loss. Results \ nFive anomalies in known hearing loss genetics, including 1 rubbish and 4 missense mutations, were recognized in 5 different genes, and the genotypes for these mutations followed the autosomal leading inheritance pattern of hearing loss in each family. Utilizing this NGS strategy to establish a database of typical anomalies in Korean patients with hearing loss and additional data buildup will add to the early diagnosis and essential treatments for genetic hearing loss.

Source link: https://doi.org/10.1186/1750-1172-7-60

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions