Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia-Reference-Cited by-同舟云学术

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Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia

Published:2023-04-29 Issue:8 Volume:270 Page:4112-4117
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Fleszar Zofia,Dufke Claudia,Sturm Marc,Schüle Rebecca,Schöls Ludger,Haack Tobias B.,Synofzik Matthis^ORCID

Funder

Else Kröner-Fresenius-Stiftung

Universitätsklinikum Tübingen

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

https://link.springer.com/content/pdf/10.1007/s00415-023-11745-8.pdf

Reference18 articles.

1. Austin-Tse CA, Jobanputra V, Perry DL, Bick D, Taft RJ, Venner E et al (2022) Best practices for the interpretation and reporting of clinical whole genome sequencing. NPJ Genom Med 7:27. https://doi.org/10.1038/s41525-022-00295-z

2. Campopiano R, Femiano C, Chiaravalloti MA, Ferese R, Centonze D, Buttari F et al (2021) A large family with p.Arg554His mutation in ABCD1: clinical features and genotype/phenotype correlation in female carriers. Genes. https://doi.org/10.3390/genes12050775

3. Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F et al (1996) Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423–1427. https://doi.org/10.1126/science.271.5254.1423

4. Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY et al (2019) Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet 51:649–658. https://doi.org/10.1038/s41588-019-0372-4

5. Durr A (2010) Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. The Lancet Neurology 9:885–894. https://doi.org/10.1016/s1474-4422(10)70183-6

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1. Genomes in clinical care;npj Genomic Medicine;2024-03-14

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