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

被引：1

作者：

Zepeda-Mendoza, Cinthya J. ^{[1
]}

Bontrager, Jordan E. ^{[1
]}

Fisher, Camille F. ^{[2
]}

McDonald, Amber ^{[1
]}

George-Abraham, Jaya K. ^{[2
]}

Hasadsri, Linda ^{[1
]}

机构：

[1] Mayo Clin, Dept Lab Med & Pathol, Div Lab Genet & Genom, Rochester, MN USA

[2] Dell Childrens Med Grp, Austin, TX USA

来源：

CLINICAL CASE REPORTS | 2022年 / 10卷 / 07期

关键词：

DMD; Duchenne muscular dystrophy; duplication; dystrophinopathy; REARRANGEMENTS; MUTATIONS; GENE;

D O I：

10.1002/ccr3.6008

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页数：5

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