Identification of a novel and heterozygous LMF1 nonsense mutation in an acute pancreatitis patient with severe hypertriglyceridemia, severe obesity and heavy smoking
| العنوان: | Identification of a novel and heterozygous LMF1 nonsense mutation in an acute pancreatitis patient with severe hypertriglyceridemia, severe obesity and heavy smoking |
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| المؤلفون: | Xiao-Yao Li, Qi Yang, Wei-Wei Chen, Guotao Lu, Weiqin Li, Na Pu, Zhihui Tong, Jian-Min Chen, Xiao-Lei Shi |
| المصدر: | Lipids in Health and Disease Lipids in Health and Disease, Vol 18, Iss 1, Pp 1-5 (2019) |
| بيانات النشر: | BioMed Central, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Adult, Male, medicine.medical_specialty, Heterozygote, Endocrinology, Diabetes and Metabolism, media_common.quotation_subject, Clinical Biochemistry, Nonsense, Nonsense mutation, 030209 endocrinology & metabolism, 030204 cardiovascular system & hematology, 03 medical and health sciences, symbols.namesake, Exon, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Humans, Lipase maturation factor 1, Genetic Predisposition to Disease, Gene, lcsh:RC620-627, Life Style, media_common, Sanger sequencing, Hypertriglyceridemia, business.industry, Research, Biochemistry (medical), Smoking, GPIHBP1, Membrane Proteins, medicine.disease, Acute pancreatitis, Obesity, Morbid, lcsh:Nutritional diseases. Deficiency diseases, Pancreatitis, Codon, Nonsense, Mutation, symbols, business |
| الوصف: | Background Hypertriglyceridemia (HTG) is one of the most common etiologies of acute pancreatitis (AP). Variants in five genes involved in the regulation of plasma lipid metabolism, namely LPL, APOA5, APOC2, GPIHBP1 and LMF1, have been frequently reported to cause or predispose to HTG. Methods A Han Chinese patient with HTG-induced AP was assessed for genetic variants by Sanger sequencing of the entire coding and flanking sequences of the above five genes. Results The patient was a 32-year-old man with severe obesity (Body Mass Index = 35) and heavy smoking (ten cigarettes per day for more than ten years). At the onset of AP, his serum triglyceride concentration was elevated to 1450.52 mg/dL. We sequenced the entire coding and flanking sequences of the LPL, APOC2, APOA5, GBIHBP1 and LMF1 genes in the patient. We found no putative deleterious variants, with the exception of a novel and heterozygous nonsense variant, c.1024C > T (p.Arg342*; rs776584760), in exon 7 of the LMF1 gene. Conclusions This is the first time that a heterozygous LMF1 nonsense variant was found in a HTG-AP patient with severe obesity and heavy smoking, highlighting an important interplay between genetic and lifestyle factors in the etiology of HTG. Electronic supplementary material The online version of this article (10.1186/s12944-019-1012-9) contains supplementary material, which is available to authorized users. |
| اللغة: | English |
| تدمد: | 1476-511X |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73b5ccd419d40c0d066c0b7d614c7ed1Test http://europepmc.org/articles/PMC6421687Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....73b5ccd419d40c0d066c0b7d614c7ed1 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 1476511X |
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