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Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia

by Bertini, E , Sferra, A , Nardella, M , Wolfram Antonin , De Magistris, P , Barresi, S , Moreno-Andres, D , Bellacchio, E , Zanni, Ginevra , Motta, M , Ciolfi, A , Tartaglia, M , Lue, H

in Ataxia / Atrophy / Cerebellum / Cytoplasm / Kidney diseases / Nephrotic syndrome / Nucleoporins / Proteins

2019

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Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia

by Bertini, E , Sferra, A , Nardella, M , Wolfram Antonin , De Magistris, P , Barresi, S , Moreno-Andres, D , Bellacchio, E , Zanni, Ginevra , Motta, M , Ciolfi, A , Tartaglia, M , Lue, H

in Ataxia / Atrophy / Cerebellum / Cytoplasm / Kidney diseases / Nephrotic syndrome / Nucleoporins / Proteins

2019

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Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia

by Bertini, E , Sferra, A , Nardella, M , Wolfram Antonin , De Magistris, P , Barresi, S , Moreno-Andres, D , Bellacchio, E , Zanni, Ginevra , Motta, M , Ciolfi, A , Tartaglia, M , Lue, H

in Ataxia / Atrophy / Cerebellum / Cytoplasm / Kidney diseases / Nephrotic syndrome / Nucleoporins / Proteins

2019

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Journal Article

Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia

Bertini, E,

Sferra, A,

Nardella, M,

Wolfram Antonin,

De Magistris, P,

Barresi, S,

Moreno-Andres, D,

Bellacchio, E,

Zanni, Ginevra,

Motta, M,

Ciolfi, A,

Tartaglia, M,

Lue, H

2019

Overview

Nuclear pore complexes (NPCs) are the gateways of the nuclear envelope mediating transport between cytoplasm and nucleus. They form huge complexes of 125 MDa in vertebrates and consist of about 30 different nucleoporins present in multiple copies in each complex. Here, we describe pathogenic variants in the nucleoporin 93 (NUP93) associated with an autosomal recessive form of congenital ataxia. Two rare compound heterozygous variants of NUP93 were identified by whole exome sequencing in two brothers with isolated cerebellar atrophy: one missense variant (p.R537W) results in a protein which does not localize to NPCs and cannot functionally replace the wild type protein, whereas the variant (p.F699L) apparently supports NPC assembly. In addition to its recently described pathological role in steroid-resistant nephrotic syndrome, our work identifies NUP93 as a candidate gene for non-progressive congenital ataxia.

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Publisher

Springer Nature B.V

Subject

/ Atrophy