The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.

Amokelani C Mahungu, Elizabeth Steyn,Niki Floudiotis,Lindsay A Wilson,Jana Vandrovcova,Mary M Reilly,Christopher J Record,Michael Benatar,Gang Wu,Sharika Raga,Jo M Wilmshurst,Kireshnee Naidu,Michael Hanna,Melissa Nel,Jeannine M Heckmann

Frontiers in neurology（2023）

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摘要

In this preliminary cohort screening panel of disease genes using WES/WGS data, we solved ~50% of cases, which is similar to diagnostic yields reported for global cohorts. However, the mutational profile among South Africans with GN and HSP differs substantially from that in the Global North.

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关键词

whole exome sequencing, whole genome sequencing, Charcot-Marie-Tooth disease, hereditary spastic paraplegia, African, equity, diversity and inclusion

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