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02.06.2016 | Short Communication

Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation

verfasst von: Alessia Micalizzi, Isabella Moroni, Monia Ginevrino, Tommaso Biagini, Tommaso Mazza, Marta Romani, Enza Maria Valente

Erschienen in: Neurogenetics | Ausgabe 3/2016

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Abstract

Dysequilibrium syndrome (DES) is a non-progressive congenital ataxia characterized by severe intellectual deficit, truncal ataxia and markedly delayed, quadrupedal or absent ambulation. Recessive loss-of-function mutations in the very low density lipoprotein receptor (VLDLR) gene represent the most common cause of DES. Only two families have been reported harbouring homozygous missense mutations, both with a similarly severe phenotype. We report an Italian girl with very mild DES caused by the novel homozygous VLDLR missense mutation p.(C419Y). This unusually benign phenotype possibly relates to a less disruptive effect of the mutation, falling within a domain (EGF-B) not predicted as crucial for the protein function.

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Titel: Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation
verfasst von: Alessia Micalizzi
Isabella Moroni
Monia Ginevrino
Tommaso Biagini
Tommaso Mazza
Marta Romani
Enza Maria Valente
Publikationsdatum: 02.06.2016
Verlag: Springer Berlin Heidelberg
Erschienen in: Neurogenetics / Ausgabe 3/2016
Print ISSN: 1364-6745
Elektronische ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-016-0488-y

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