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Article: Exome sequencing in paediatric patients with movement disorders [accepted - OJRD-D-20-00713R2]

TitleExome sequencing in paediatric patients with movement disorders [accepted - OJRD-D-20-00713R2]
Authors
KeywordsMovement disorders
Whole exome sequencing
Genetic diagnosis
Treatment
Issue Date2021
PublisherBioMed Central Ltd. The Journal's web site is located at http://www.ojrd.com
Citation
Orphanet Journal of Rare Diseases, 2021, v. 16, p. article no. 32 How to Cite?
AbstractBackground: Movement disorders are a group of heterogeneous neurological diseases including hyperkinetic disorders with unwanted excess movements and hypokinetic disorders with reduction in the degree of movements. The objective of our study is to investigate the genetic etiology of a cohort of paediatric patients with movement disorders by whole exome sequencing and to review the potential treatment implications after a genetic diagnosis. Results: We studied a cohort of 31 patients who have paediatric-onset movement disorders with unrevealing etiologies. Whole exome sequencing was performed and rare variants were interrogated for pathogenicity. Genetic diagnoses have been confirmed in 10 patients with disease-causing variants in CTNNB1, SPAST, ATP1A3, PURA, SLC2A1, KMT2B, ACTB, GNAO1 and SPG11. 80% (8/10) of patients with genetic diagnosis have potential treatment implications and treatments have been offered to them. One patient with KMT2B dystonia showed clinical improvement with decrease in dystonia after receiving globus pallidus interna deep brain stimulation. Conclusions: A diagnostic yield of 32% (10/31) was reported in our cohort and this allows a better prediction of prognosis and contributes to a more effective clinical management. The study highlights the potential of implementing precision medicine in the patients.
Persistent Identifierhttp://hdl.handle.net/10722/295545
ISSN
2020 Impact Factor: 4.123
2020 SCImago Journal Rankings: 1.274
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorKwong, AKY-
dc.contributor.authorTSANG, MHY-
dc.contributor.authorFung, JLF-
dc.contributor.authorMak, CCY-
dc.contributor.authorChan, KLS-
dc.contributor.authorRodenburg, RJT-
dc.contributor.authorLek, M-
dc.contributor.authorHuang, S-
dc.contributor.authorPajusalu, S-
dc.contributor.authorYau, MM-
dc.contributor.authorTsoi, C-
dc.contributor.authorFung, S-
dc.contributor.authorLiu, KT-
dc.contributor.authorMa, CK-
dc.contributor.authorWong, S-
dc.contributor.authorYau, EKC-
dc.contributor.authorTai, SM-
dc.contributor.authorFung, ELW-
dc.contributor.authorWu, NSP-
dc.contributor.authorTsung, LY-
dc.contributor.authorSmeitink, J-
dc.contributor.authorChung, BHY-
dc.contributor.authorFung, CW-
dc.date.accessioned2021-01-25T11:16:23Z-
dc.date.available2021-01-25T11:16:23Z-
dc.date.issued2021-
dc.identifier.citationOrphanet Journal of Rare Diseases, 2021, v. 16, p. article no. 32-
dc.identifier.issn1750-1172-
dc.identifier.urihttp://hdl.handle.net/10722/295545-
dc.description.abstractBackground: Movement disorders are a group of heterogeneous neurological diseases including hyperkinetic disorders with unwanted excess movements and hypokinetic disorders with reduction in the degree of movements. The objective of our study is to investigate the genetic etiology of a cohort of paediatric patients with movement disorders by whole exome sequencing and to review the potential treatment implications after a genetic diagnosis. Results: We studied a cohort of 31 patients who have paediatric-onset movement disorders with unrevealing etiologies. Whole exome sequencing was performed and rare variants were interrogated for pathogenicity. Genetic diagnoses have been confirmed in 10 patients with disease-causing variants in CTNNB1, SPAST, ATP1A3, PURA, SLC2A1, KMT2B, ACTB, GNAO1 and SPG11. 80% (8/10) of patients with genetic diagnosis have potential treatment implications and treatments have been offered to them. One patient with KMT2B dystonia showed clinical improvement with decrease in dystonia after receiving globus pallidus interna deep brain stimulation. Conclusions: A diagnostic yield of 32% (10/31) was reported in our cohort and this allows a better prediction of prognosis and contributes to a more effective clinical management. The study highlights the potential of implementing precision medicine in the patients.-
dc.languageeng-
dc.publisherBioMed Central Ltd. The Journal's web site is located at http://www.ojrd.com-
dc.relation.ispartofOrphanet Journal of Rare Diseases-
dc.rightsOrphanet Journal of Rare Diseases. Copyright © BioMed Central Ltd.-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subjectMovement disorders-
dc.subjectWhole exome sequencing-
dc.subjectGenetic diagnosis-
dc.subjectTreatment-
dc.titleExome sequencing in paediatric patients with movement disorders [accepted - OJRD-D-20-00713R2]-
dc.typeArticle-
dc.identifier.emailKwong, AKY: kkyanna@hku.hk-
dc.identifier.emailFung, JLF: jasflf@connect.hku.hk-
dc.identifier.emailMak, CCY: ccymak@connect.hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.emailFung, CW: fcw1209m@hku.hk-
dc.identifier.authorityChung, BHY=rp00473-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1186/s13023-021-01688-6-
dc.identifier.pmid33446253-
dc.identifier.pmcidPMC7809769-
dc.identifier.scopuseid_2-s2.0-85099469543-
dc.identifier.hkuros320959-
dc.identifier.volume16-
dc.identifier.spagearticle no. 32-
dc.identifier.epagearticle no. 32-
dc.identifier.isiWOS:000607859500001-
dc.publisher.placeUnited Kingdom-
dc.identifier.issnl1750-1172-

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