Open AccessMolecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy
Author(s) -
ZepedaMendoza Cinthya J.,
Bontrager Jordan E.,
Fisher Camille F.,
McDonald Amber,
GeorgeAbraham Jaya K.,
Hasadsri Linda
Publication year - 2022
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.6008
Subject(s) - proband , gene duplication , medicine , duchenne muscular dystrophy , creatine kinase , muscular dystrophy , exon , genetics , pediatrics , gene , mutation , biology
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.