c.202_204del in NUP214 causes late onset form of febrile encephalopathy
Document Type
Article
Publication Title
American Journal of Medical Genetics, Part A
Abstract
Nucleoporins (NUPs) are a group of transporter proteins that maintain homeostasis of nucleocytoplasmic transport of proteins and ribonucleic acids under physiological conditions. Biallelic pathogenic variants in NUP214 are known to cause susceptibility to acute infection-induced encephalopathy-9 (IIAE9, MIM#618426), which is characterized by severe and early-onset febrile encephalopathy causing neuroregression, developmental delay, microcephaly, epilepsy, ataxia, brain atrophy, and early death. NUP214-related IIAE9 has been reported in eight individuals from four distinct families till date. We identified a novel in-frame deletion, c.202_204del p.(Leu68del), in NUP214 by exome sequencing in a 20-year-old male with episodic ataxia, seizures, and encephalopathy, precipitated by febrile illness. Neuroimaging revealed progressive cerebellar atrophy. In silico predictions show a change in the protein conformation that may alter the downstream protein interactions with the NUP214 N-terminal region, probably impacting the mRNA export. We report this novel deletion in NUP214 as a cause for a late onset and less severe form of IIAE9.
DOI
10.1002/ajmg.a.63529
Publication Date
5-1-2024
Recommended Citation
Farooqui, Sheeba; Narayanan, Dhanya Lakshmi; Mascarenhas, Selinda; and do Rosario, Michelle C., "c.202_204del in NUP214 causes late onset form of febrile encephalopathy" (2024). Open Access archive. 6628.
https://impressions.manipal.edu/open-access-archive/6628
