Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients

Abdullah, Ili Syazwana and Teh, Ser Huy and Khaidizar, Fiqri Dizar and Ngu, Lock Hock and Keng, Wee Teik and Yap, Sufin and Mohamed, Zulqarnain (2019) Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients. Genes & Genomics, 41 (8). pp. 885-893. ISSN 1976-9571, DOI

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Background: Glycogen storage disease type III is an autosomal recessive disorder that is caused by deficiencies of the glycogen debranching enzyme. Mutations within the AGL gene have been found to be heterogeneous, with some common mutations being reported in certain populations. The mutation spectrum of AGL gene in the multi-ethnic Malaysian population is still unknown. Objective: The present study seeks to determine the mutation spectrum of the AGL gene in Malaysian population. Methods: A total of eleven patients (eight Malay, two Chinese and one Bajau) were investigated. Genomic DNA was extracted and subsequently the AGL gene was amplified using specific primers and sequenced. Mutations found were screened in 150 healthy control samples either by restriction enzyme digestion assay or TaqMan® SNP Genotyping assay. Results: We identified six unreported mutations (c.1423+1G>T, c.2914_2915delAA, c.3814_3815delAG, c.4333T>G, c.4490G>A, c.4531_4534delTGTC) along with three previously reported mutations (c.99C>T, c.1783C>T, c.2681+1G>A). One of the six unreported mutation causes abnormal splicing and results in retention of intron 12 of the mature transcript, while another is a termination read-through. One of the reported mutation c.2681+1G>A was recurrently found in the Malay patients (n = 7 alleles; 31.8%). Conclusion: The mutation spectrum of the AGL gene in Malaysian patients has shown considerable heterogeneity, and all unreported mutations were absent in all 150 healthy control samples tested. © 2019, The Genetics Society of Korea.

Item Type: Article
Funders: Ministry of Science, Technology and Innovation of Malaysia for the eScience fund (SF012-2012), University of Malaya for the UM Biotechnology and Bioproduct Research Cluster fund (RG071-12BIO)
Uncontrolled Keywords: Catalytic domain; Glycogen debranching enzyme; Glycogen storage disease type III; Mutant proteins; Mutation
Subjects: Q Science > Q Science (General)
Q Science > QH Natural history
R Medicine
Divisions: Faculty of Medicine
Depositing User: Ms. Juhaida Abd Rahim
Date Deposited: 30 Apr 2020 07:37
Last Modified: 30 Apr 2020 07:37

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