Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy

A 2‐month‐old male patient harboring a duplication of DMD exons 1–7 classified as pathogenic by an outside institution presented with mildly elevated creatine phosphokinase (CK); molecular breakpoint analysis by our laboratory reclassified the duplication as likely benign. To date, proband continues...

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Autores principales: Zepeda‐Mendoza, Cinthya J., Bontrager, Jordan E., Fisher, Camille F., McDonald, Amber, George‐Abraham, Jaya K., Hasadsri, Linda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9272227/
https://www.ncbi.nlm.nih.gov/pubmed/35846917
http://dx.doi.org/10.1002/ccr3.6008
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author Zepeda‐Mendoza, Cinthya J.
Bontrager, Jordan E.
Fisher, Camille F.
McDonald, Amber
George‐Abraham, Jaya K.
Hasadsri, Linda
author_facet Zepeda‐Mendoza, Cinthya J.
Bontrager, Jordan E.
Fisher, Camille F.
McDonald, Amber
George‐Abraham, Jaya K.
Hasadsri, Linda
author_sort Zepeda‐Mendoza, Cinthya J.
collection PubMed
description A 2‐month‐old male patient harboring a duplication of DMD exons 1–7 classified as pathogenic by an outside institution presented with mildly elevated creatine phosphokinase (CK); molecular breakpoint analysis by our laboratory reclassified the duplication as likely benign. To date, proband continues to develop normally with decreased CK, further supporting our reclassification.
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spelling pubmed-92722272022-07-15 Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy Zepeda‐Mendoza, Cinthya J. Bontrager, Jordan E. Fisher, Camille F. McDonald, Amber George‐Abraham, Jaya K. Hasadsri, Linda Clin Case Rep Case Report A 2‐month‐old male patient harboring a duplication of DMD exons 1–7 classified as pathogenic by an outside institution presented with mildly elevated creatine phosphokinase (CK); molecular breakpoint analysis by our laboratory reclassified the duplication as likely benign. To date, proband continues to develop normally with decreased CK, further supporting our reclassification. John Wiley and Sons Inc. 2022-07-11 /pmc/articles/PMC9272227/ /pubmed/35846917 http://dx.doi.org/10.1002/ccr3.6008 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Zepeda‐Mendoza, Cinthya J.
Bontrager, Jordan E.
Fisher, Camille F.
McDonald, Amber
George‐Abraham, Jaya K.
Hasadsri, Linda
Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy
title Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy
title_full Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy
title_fullStr Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy
title_full_unstemmed Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy
title_short Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy
title_sort molecular characterization and reclassification of a 1.18 mbp dmd duplication following positive carrier screening for duchenne/becker muscular dystrophy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9272227/
https://www.ncbi.nlm.nih.gov/pubmed/35846917
http://dx.doi.org/10.1002/ccr3.6008
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