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Acta Neurologica Belgica

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Open Access 05-09-2023 | Polysomnography | Letter to the Editor

A novel DCTN1 mutation causing perry syndrome leads to abnormal splicing of mRNA: genetic and functional analyses

Authors: Wotu Tian, Li Yao, Guochao Shi, Ranran Dai, Li Cao

Published in: Acta Neurologica Belgica | Issue 2/2024

Excerpt

To the editor …

Konno T et al (2017) DCTN1-related neurodegeneration: Perry syndrome and beyond. Parkinsonism Relat Disord 41:14–24CrossRefPubMedPubMedCentral

Farrer MJ et al (2009) DCTN1 mutations in Perry syndrome. Nat Genet 41(2):163–165CrossRefPubMedPubMedCentral

Tian WT et al (2020) New phenotype of DCTN1-related spectrum: early-onset dHMN plus congenital foot deformity. Ann Clin Transl Neurol 7(2):200–209CrossRefPubMedPubMedCentral

Puls I et al (2003) Mutant dynactin in motor neuron disease. Nat Genet 33(4):455–456CrossRefPubMed

Zhu X et al (2015) Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. Genet Med 17(10):774–781CrossRefPubMedPubMedCentral

Title: A novel DCTN1 mutation causing perry syndrome leads to abnormal splicing of mRNA: genetic and functional analyses
Authors: Wotu Tian
Li Yao
Guochao Shi
Ranran Dai
Li Cao
Publication date: 05-09-2023
Publisher: Springer International Publishing
Keywords: Polysomnography
Mood Disorders
Affective Disorder
Insomnia
Published in: Acta Neurologica Belgica / Issue 2/2024
Print ISSN: 0300-9009
Electronic ISSN: 2240-2993
DOI: https://doi.org/10.1007/s13760-023-02368-x

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A novel DCTN1 mutation causing perry syndrome leads to abnormal splicing of mRNA: genetic and functional analyses

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