A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy

A large consanguineous family was studied after 5 babies died in infancy. The affected individuals present with weakness and poor muscle tone from birth, which progressed to respiratory failure causing death at an early age. Examination and ancillary tests showed a severe peripheral neuropathy, but not central nervous system abnormalities were observed. A homozygous novel UBA5 p. Arg11Trp pathogenic variant was identified as the cause of the disease. The finding is interesting because mutation in UBA5 are known to cause other neurodegenerative phenotypes, involving central nervous system, but prominent involvement of the peripheral nervous system had not been described before. (By Dr. Macarena Cabrera, https://jmg.bmj.com/content/early/2020/03/16/jmedgenet-2019-106496 )

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