Rapid Diagnosis of Spinocerebellar Ataxia 36 in a <scp>Three‐Generation</scp> Family Using <scp>Short‐Read Whole‐Genome</scp> Sequencing Data

DOI Web Site Web Site Web Site Web Site 被引用文献2件
  • Haloom Rafehi
    Walter and Eliza Hall Institute of Medical Research Melbourne Victoria Australia
  • David J. Szmulewicz
    Cerebellar Ataxia Clinic, Neuroscience Department Alfred Health Melbourne Victoria Australia
  • Kate Pope
    Bruce Lefroy Centre for Genetic Health Research Murdoch Children's Research Institute Parkville Victoria Australia
  • Mathew Wallis
    Tasmanian Clinical Genetics Service, Tasmanian Health Service Tasmania Australia
  • John Christodoulou
    Brain and Mitochondrial Research Group, Murdoch Children's Research Institute Parkville Victoria Australia
  • Susan M. White
    Department of Pediatrics The University of Melbourne Parkville Victoria Australia
  • Martin B. Delatycki
    Bruce Lefroy Centre for Genetic Health Research Murdoch Children's Research Institute Parkville Victoria Australia
  • Paul J. Lockhart
    Bruce Lefroy Centre for Genetic Health Research Murdoch Children's Research Institute Parkville Victoria Australia
  • Melanie Bahlo
    Walter and Eliza Hall Institute of Medical Research Melbourne Victoria Australia

書誌事項

公開日
2020-05-14
権利情報
  • http://onlinelibrary.wiley.com/termsAndConditions#vor
DOI
  • 10.1002/mds.28105
公開者
Wiley

この論文をさがす

説明

<jats:title>Abstract</jats:title> <jats:sec> <jats:title>Background</jats:title> <jats:p>Spinocerebellar ataxias are often caused by expansions of short tandem repeats. Recent methodological advances have made repeat expansion (RE) detection with whole‐genome sequencing (WGS) feasible.</jats:p> </jats:sec> <jats:sec> <jats:title>Objectives</jats:title> <jats:p>The objective of this study was to determine the genetic basis of ataxia in a multigenerational Australian pedigree with autosomal‐dominant inheritance.</jats:p> </jats:sec> <jats:sec> <jats:title>Methods and Results</jats:title> <jats:p> WGS was performed on 3 affected relatives. The sequence data were screened for known pathogenic REs using 2 RE detection tools: exSTRa and ExpansionHunter. This screen provided a clear and rapid diagnosis (<5 days from receiving the sequencing data) of spinocerebellar ataxia 36, a rare form of ataxia caused by an intronic GGCCTG RE in <jats:italic>NOP56</jats:italic> . </jats:p> </jats:sec> <jats:sec> <jats:title>Conclusions</jats:title> <jats:p>The diagnosis of rare ataxias caused by REs is highly feasible and cost‐effective with WGS. We propose that WGS could potentially be implemented as the frontline, cost‐effective methodology for the molecular testing of individuals with a clinical diagnosis of ataxia. © 2020 International Parkinson and Movement Disorder Society</jats:p> </jats:sec>

収録刊行物

被引用文献 (2)*注記

もっと見る

問題の指摘

ページトップへ