Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X

2021 ◽  
pp. 104283
Author(s):  
Anam Nayab ◽  
Qamre Alam ◽  
Othman R. Alzahrani ◽  
Ranjha Khan ◽  
Sara Sarfraz ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Targeted Exome Sequencing

scholarly journals A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series

2015 ◽  
Vol 187 (2) ◽  
pp. E68-E73 ◽  
Author(s):  
Isabelle Rousseau-Nepton ◽  
Minoru Okubo ◽  
Rosemarie Grabs ◽  
John Mitchell ◽  
Constantin Polychronakos ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Case Series ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iiia ◽  
Whole Exome

Glycogen Storage Disease Type IV Diagnosed at Fetal Autopsy

2019 ◽  
Vol 23 (4) ◽  
pp. 301-305
Author(s):  
Daniel C Butler ◽  
W Bailey Glen ◽  
Cynthia Schandl ◽  
Angelina Phillips
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Periodic Acid ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Unknown Etiology ◽  
Chromosomal Microarray Analysis ◽  
Fetal Autopsy ◽  
Type Iv

Glycogen storage disease type IV (GSD IV; Andersen's disease) is a rare autosomal recessive disorder that results from defects in the GBE1 gene (3p12.2) and subsequent deficiencies of glycogen branching. We report a case of GSD IV diagnosed at autopsy in a 35 4/7 weeks gestational age female neonate that died shortly after birth. Multisystem blue, ground glass inclusions initially presumed artefactual were periodic acid-Schiff positive, diastase resistant. Chromosomal microarray analysis identified a deletion of exons 2 through 16 of the GBE1 gene and whole exome sequencing identified a nonsense mutation within exon 14, confirming the diagnosis of GSD IV. A strong index of suspicion was required determine GSD IV as the ultimate cause of death, illustrating the need for critical evaluation of postmortem artifact in the setting of fetal demise of unknown etiology and highlighting the role of postmortem molecular diagnostics in a subset of cases.

Glycogen storage disease type I a: Frequency and clinical course in Turkish children

2000 ◽  
Vol 67 (7) ◽  
pp. 497-501 ◽  
Author(s):  
Inci Nur Saltik ◽  
Hasan Özen ◽  
Gönenç Ciliv ◽  
Nurten Koçak ◽  
Aysel Yüce ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Clinical Course ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type I ◽  
Turkish Children
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