Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran.

Atefe Papi,Mina Zamani,Gholamreza Shariati,Alireza Sedaghat,Tahere Seifi,Samira Negahdari,Sahar Sadat Sedighzadeh,Jawaher Zeighami,Alihossein Saberi,Mohammad Hamid,Hamid Galehdari

Molecular genetics & genomic medicine（2023）

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摘要

The suspected clinical diagnosis of CDG and GSD patients was confirmed by identifying missense and or nonsense mutations in PGM1, DPM1, RFT1, GAA, and AGL genes by WES of all 7 cases. This study helps us understand the scenario of the disorder causes and consider the variants for quick disease diagnosis.

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关键词

CDG,GSD,Iran,Pathogenic genetic variants,WES

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