The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III
Abstract Background Glycogen storage disease type III (GSD III) is a rare autosomal recessive glycogenolysis disorder due to AGL gene variants, characterized by hepatomegaly, fasting hypoglycemia, hyperlipidemia, elevated hepatic transaminases, growth retardation, progressive myopathy, and cardiomyo...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2022-05-01
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| Series: | BMC Pediatrics |
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| Online Access: | https://doi.org/10.1186/s12887-022-03252-y |
| _version_ | 1818547946342318080 |
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| author | Jing Wang Yuping Yu Chunquan Cai Xiufang Zhi Ying Zhang Yu Zhao Jianbo Shu |
| author_facet | Jing Wang Yuping Yu Chunquan Cai Xiufang Zhi Ying Zhang Yu Zhao Jianbo Shu |
| author_sort | Jing Wang |
| collection | DOAJ |
| description | Abstract Background Glycogen storage disease type III (GSD III) is a rare autosomal recessive glycogenolysis disorder due to AGL gene variants, characterized by hepatomegaly, fasting hypoglycemia, hyperlipidemia, elevated hepatic transaminases, growth retardation, progressive myopathy, and cardiomyopathy. However, it is not easy to make a definite diagnosis in early stage of disease only based on the clinical phenotype and imageology due to its clinical heterogeneity. Case presentation We report a two-year-old girl with GSD III from a nonconsanguineous Chinese family, who presented with hepatomegaly, fasting hypoglycemia, hyperlipidemia, elevated levels of transaminases. Accordingly, Sanger sequencing, whole‑exome sequencing of family trios, and qRT-PCR was performed, which revealed that the patient carried the compound heterogeneous variants, a novel frameshift mutation c.597delG (p. Q199Hfs*2) and a novel large gene fragment deletion of the entire exon 13 in AGL gene. The deletion of AGL was inherited from the proband’s father and the c.597delG variant was from the mother. Conclusions In this study, we identified two novel variants c.597delG (p. Q199Hfs*2) and deletion of the entire exon 13 in AGL in a Chinese GSD III patient. We extend the mutation spectrum of AGL. We suggest that high-throughput sequencing technology can detect and screen pathogenic variant, which is a scientific basis about genetic counseling and clinical diagnosis. |
| first_indexed | 2024-12-12T08:13:26Z |
| format | Article |
| id | doaj.art-582c87ac75ef4689bff89c9495a41282 |
| institution | Directory Open Access Journal |
| issn | 1471-2431 |
| language | English |
| last_indexed | 2024-12-12T08:13:26Z |
| publishDate | 2022-05-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj.art-582c87ac75ef4689bff89c9495a412822022-12-22T00:31:41ZengBMCBMC Pediatrics1471-24312022-05-0122111010.1186/s12887-022-03252-yThe biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type IIIJing Wang0Yuping Yu1Chunquan Cai2Xiufang Zhi3Ying Zhang4Yu Zhao5Jianbo Shu6Department of Gastroenterology, Tianjin Children’s HospitalTianjin Children’s Hospital (Children’s Hospital of Tianjin University)Tianjin Children’s Hospital (Children’s Hospital of Tianjin University)Tianjin Children’s Hospital (Children’s Hospital of Tianjin University)Tianjin Children’s Hospital (Children’s Hospital of Tianjin University)Department of Gastroenterology, Tianjin Children’s HospitalTianjin Children’s Hospital (Children’s Hospital of Tianjin University)Abstract Background Glycogen storage disease type III (GSD III) is a rare autosomal recessive glycogenolysis disorder due to AGL gene variants, characterized by hepatomegaly, fasting hypoglycemia, hyperlipidemia, elevated hepatic transaminases, growth retardation, progressive myopathy, and cardiomyopathy. However, it is not easy to make a definite diagnosis in early stage of disease only based on the clinical phenotype and imageology due to its clinical heterogeneity. Case presentation We report a two-year-old girl with GSD III from a nonconsanguineous Chinese family, who presented with hepatomegaly, fasting hypoglycemia, hyperlipidemia, elevated levels of transaminases. Accordingly, Sanger sequencing, whole‑exome sequencing of family trios, and qRT-PCR was performed, which revealed that the patient carried the compound heterogeneous variants, a novel frameshift mutation c.597delG (p. Q199Hfs*2) and a novel large gene fragment deletion of the entire exon 13 in AGL gene. The deletion of AGL was inherited from the proband’s father and the c.597delG variant was from the mother. Conclusions In this study, we identified two novel variants c.597delG (p. Q199Hfs*2) and deletion of the entire exon 13 in AGL in a Chinese GSD III patient. We extend the mutation spectrum of AGL. We suggest that high-throughput sequencing technology can detect and screen pathogenic variant, which is a scientific basis about genetic counseling and clinical diagnosis.https://doi.org/10.1186/s12887-022-03252-yGlycogen storage disease type IIIAGL geneFrameshift variantNovel variantWhole-exome sequencing |
| spellingShingle | Jing Wang Yuping Yu Chunquan Cai Xiufang Zhi Ying Zhang Yu Zhao Jianbo Shu The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III BMC Pediatrics Glycogen storage disease type III AGL gene Frameshift variant Novel variant Whole-exome sequencing |
| title | The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III |
| title_full | The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III |
| title_fullStr | The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III |
| title_full_unstemmed | The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III |
| title_short | The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III |
| title_sort | biallelic novel pathogenic variants in agl gene in a chinese patient with glycogen storage disease type iii |
| topic | Glycogen storage disease type III AGL gene Frameshift variant Novel variant Whole-exome sequencing |
| url | https://doi.org/10.1186/s12887-022-03252-y |
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