A novel Gly436Glu variant in the LPL gene identified in a Saudi Arabian patient with severe hypertriglyceridemia and recurrent pancreatitis
Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder characterized by severe hypertriglyceridemia and recurrent pancreatitis, often manifesting in childhood. The condition results from variants in the lipoprotein lipase (LPL) gene, which lead to impaired fat metabolism. We...
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Sungkyunkwan University School of Medi
2024-12-01
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| Series: | Precision and Future Medicine |
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| Online Access: | http://pfmjournal.org/upload/pdf/pfm-2024-00163.pdf |
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| author | Dena A. Nuwaylati Hussam Daghistani Noor Ahmad Shaik Zuhier A. Awan |
| author_facet | Dena A. Nuwaylati Hussam Daghistani Noor Ahmad Shaik Zuhier A. Awan |
| author_sort | Dena A. Nuwaylati |
| collection | DOAJ |
| description | Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder characterized by severe hypertriglyceridemia and recurrent pancreatitis, often manifesting in childhood. The condition results from variants in the lipoprotein lipase (LPL) gene, which lead to impaired fat metabolism. We report the case of an 18-year-old Saudi male with a lifelong history of hypertriglyceridemia and recurrent episodes of pancreatitis. Laboratory investigations revealed severe hypertriglyceridemia and low high-density lipoprotein cholesterol, consistent with FCS. A comprehensive evaluation excluded secondary causes of hyperlipidemia, suggesting a potential genetic basis for the condition. Whole-exome sequencing identified a novel homozygous missense variant (c.1307G> A; p.Gly436Glu) in the LPL gene. Bioinformatics analysis predicted this variant to be deleterious, potentially disrupting the structure and stability of the LPL enzyme and impairing its ability to hydrolyze dietary fats. This finding suggested a causal link between the variant and the patient’s FCS phenotype. This case highlights the importance of molecular diagnosis in FCS, enabling the identification of causative genetic alterations and improving our understanding of the link between LPL dysfunction and severe metabolic disorders. |
| format | Article |
| id | doaj-art-5abb0bd8c92e4e2db4231b2f3832fcca |
| institution | Kabale University |
| issn | 2508-7940 2508-7959 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Sungkyunkwan University School of Medi |
| record_format | Article |
| series | Precision and Future Medicine |
| spelling | doaj-art-5abb0bd8c92e4e2db4231b2f3832fcca2025-08-20T03:33:26ZengSungkyunkwan University School of MediPrecision and Future Medicine2508-79402508-79592024-12-018417818310.23838/pfm.2024.00163178A novel Gly436Glu variant in the LPL gene identified in a Saudi Arabian patient with severe hypertriglyceridemia and recurrent pancreatitisDena A. Nuwaylati0Hussam Daghistani1Noor Ahmad Shaik2Zuhier A. Awan3 Department of Clinical Biochemistry, Faculty of Medicine, University of Jeddah, Jeddah, Saudi Arabia Department of Clinical Biochemistry, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia Department of Clinical Biochemistry, Faculty of Medicine, University of Jeddah, Jeddah, Saudi ArabiaFamilial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder characterized by severe hypertriglyceridemia and recurrent pancreatitis, often manifesting in childhood. The condition results from variants in the lipoprotein lipase (LPL) gene, which lead to impaired fat metabolism. We report the case of an 18-year-old Saudi male with a lifelong history of hypertriglyceridemia and recurrent episodes of pancreatitis. Laboratory investigations revealed severe hypertriglyceridemia and low high-density lipoprotein cholesterol, consistent with FCS. A comprehensive evaluation excluded secondary causes of hyperlipidemia, suggesting a potential genetic basis for the condition. Whole-exome sequencing identified a novel homozygous missense variant (c.1307G> A; p.Gly436Glu) in the LPL gene. Bioinformatics analysis predicted this variant to be deleterious, potentially disrupting the structure and stability of the LPL enzyme and impairing its ability to hydrolyze dietary fats. This finding suggested a causal link between the variant and the patient’s FCS phenotype. This case highlights the importance of molecular diagnosis in FCS, enabling the identification of causative genetic alterations and improving our understanding of the link between LPL dysfunction and severe metabolic disorders.http://pfmjournal.org/upload/pdf/pfm-2024-00163.pdfhomozygotehypertriglyceridemialipoprotein lipasepancreatitis |
| spellingShingle | Dena A. Nuwaylati Hussam Daghistani Noor Ahmad Shaik Zuhier A. Awan A novel Gly436Glu variant in the LPL gene identified in a Saudi Arabian patient with severe hypertriglyceridemia and recurrent pancreatitis Precision and Future Medicine homozygote hypertriglyceridemia lipoprotein lipase pancreatitis |
| title | A novel Gly436Glu variant in the LPL gene identified in a Saudi Arabian patient with severe hypertriglyceridemia and recurrent pancreatitis |
| title_full | A novel Gly436Glu variant in the LPL gene identified in a Saudi Arabian patient with severe hypertriglyceridemia and recurrent pancreatitis |
| title_fullStr | A novel Gly436Glu variant in the LPL gene identified in a Saudi Arabian patient with severe hypertriglyceridemia and recurrent pancreatitis |
| title_full_unstemmed | A novel Gly436Glu variant in the LPL gene identified in a Saudi Arabian patient with severe hypertriglyceridemia and recurrent pancreatitis |
| title_short | A novel Gly436Glu variant in the LPL gene identified in a Saudi Arabian patient with severe hypertriglyceridemia and recurrent pancreatitis |
| title_sort | novel gly436glu variant in the lpl gene identified in a saudi arabian patient with severe hypertriglyceridemia and recurrent pancreatitis |
| topic | homozygote hypertriglyceridemia lipoprotein lipase pancreatitis |
| url | http://pfmjournal.org/upload/pdf/pfm-2024-00163.pdf |
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