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A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members
BACKGROUND: KMT2B-related dystonia is a primarily childhood-onset movement disorder characterized by progressive dystonia, spasticity, and developmental delay. A minority of individuals possess an inherited KMT2B variant. CASE REPORT: As a child, the proband experienced mild developmental delay and...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Ubiquity Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8932353/ https://www.ncbi.nlm.nih.gov/pubmed/35415007 http://dx.doi.org/10.5334/tohm.679 |
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author | Owczarzak, Laura R. Hogan, Kelsey E. Dineen, Richard T. Gill, Chandler E. Li, Mindy H. |
author_facet | Owczarzak, Laura R. Hogan, Kelsey E. Dineen, Richard T. Gill, Chandler E. Li, Mindy H. |
author_sort | Owczarzak, Laura R. |
collection | PubMed |
description | BACKGROUND: KMT2B-related dystonia is a primarily childhood-onset movement disorder characterized by progressive dystonia, spasticity, and developmental delay. A minority of individuals possess an inherited KMT2B variant. CASE REPORT: As a child, the proband experienced mild developmental delay and laryngeal dystonia which progressed to generalized dystonia. Patellar hyperreflexia, postural tremor, and everted gait were documented. Whole exome sequencing identified a heterozygous pathogenic KMT2B variant in the proband, proband’s sister, and proband’s mother who had milder presentations. DISCUSSION: This novel KMT2B variant reflects intrafamilial variable expressivity in KMT2B-related dystonia. Further identification of variants will allow for better appreciation of the phenotypic spectrum. |
format | Online Article Text |
id | pubmed-8932353 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Ubiquity Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-89323532022-04-11 A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members Owczarzak, Laura R. Hogan, Kelsey E. Dineen, Richard T. Gill, Chandler E. Li, Mindy H. Tremor Other Hyperkinet Mov (N Y) Case Report BACKGROUND: KMT2B-related dystonia is a primarily childhood-onset movement disorder characterized by progressive dystonia, spasticity, and developmental delay. A minority of individuals possess an inherited KMT2B variant. CASE REPORT: As a child, the proband experienced mild developmental delay and laryngeal dystonia which progressed to generalized dystonia. Patellar hyperreflexia, postural tremor, and everted gait were documented. Whole exome sequencing identified a heterozygous pathogenic KMT2B variant in the proband, proband’s sister, and proband’s mother who had milder presentations. DISCUSSION: This novel KMT2B variant reflects intrafamilial variable expressivity in KMT2B-related dystonia. Further identification of variants will allow for better appreciation of the phenotypic spectrum. Ubiquity Press 2022-03-17 /pmc/articles/PMC8932353/ /pubmed/35415007 http://dx.doi.org/10.5334/tohm.679 Text en Copyright: © 2022 The Author(s) https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution 4.0 International License (CC-BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. See http://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Case Report Owczarzak, Laura R. Hogan, Kelsey E. Dineen, Richard T. Gill, Chandler E. Li, Mindy H. A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members |
title | A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members |
title_full | A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members |
title_fullStr | A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members |
title_full_unstemmed | A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members |
title_short | A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members |
title_sort | new pathologic kmt2b variant associated with childhood onset dystonia presenting as variable phenotypes among family members |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8932353/ https://www.ncbi.nlm.nih.gov/pubmed/35415007 http://dx.doi.org/10.5334/tohm.679 |
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