Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy
Abstract 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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2022-07-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.6008 |
| _version_ | 1811222700089147392 |
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| author | Cinthya J. Zepeda‐Mendoza Jordan E. Bontrager Camille F. Fisher Amber McDonald Jaya K. George‐Abraham Linda Hasadsri |
| author_facet | Cinthya J. Zepeda‐Mendoza Jordan E. Bontrager Camille F. Fisher Amber McDonald Jaya K. George‐Abraham Linda Hasadsri |
| author_sort | Cinthya J. Zepeda‐Mendoza |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-04-12T08:19:32Z |
| format | Article |
| id | doaj.art-1270659793a3440bacd9b40755d7de07 |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-04-12T08:19:32Z |
| publishDate | 2022-07-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-1270659793a3440bacd9b40755d7de072022-12-22T03:40:38ZengWileyClinical Case Reports2050-09042022-07-01107n/an/a10.1002/ccr3.6008Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophyCinthya J. Zepeda‐Mendoza0Jordan E. Bontrager1Camille F. Fisher2Amber McDonald3Jaya K. George‐Abraham4Linda Hasadsri5Division of Laboratory Genetics and Genomics Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USADivision of Laboratory Genetics and Genomics Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USADell Children's Medical Group Austin Texas USADivision of Laboratory Genetics and Genomics Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USADell Children's Medical Group Austin Texas USADivision of Laboratory Genetics and Genomics Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USAAbstract 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.https://doi.org/10.1002/ccr3.6008DMDDuchenne muscular dystrophyduplicationdystrophinopathy |
| spellingShingle | Cinthya J. Zepeda‐Mendoza Jordan E. Bontrager Camille F. Fisher Amber McDonald Jaya K. George‐Abraham Linda Hasadsri Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy Clinical Case Reports DMD Duchenne muscular dystrophy duplication dystrophinopathy |
| 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 | DMD Duchenne muscular dystrophy duplication dystrophinopathy |
| url | https://doi.org/10.1002/ccr3.6008 |
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