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Mobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia Diagnosis.
Clin Genet
November 2024
Service de Biochimie et Biologie Moléculaire, Laboratoire de Biologie Médicale MultiSites, Hospices Civils de Lyon, Bron, France.
Mobile elements (ME) can transpose by copy-and-paste mechanisms. A heterozygous insertion in APOB exon 3 coding sequence was suspected in a patient with hypobetalipoproteinemia (HBL), by gel electrophoresis of the PCR products. An insertion of a 85 bp fragment flanked by a polyA stretch and a target replication site duplication was identified as a ME insertion (MEI) from the AluYa5 subfamily, NM_000384.
View Article and Find Full Text PDFReply to "The association between primary hypobetalipoproteinemia and hepatic diseases: evidence from genetic studies".
J Hepatol
January 2025
Nantes Université, CHU Nantes, CNRS, Inserm, l'institut du thorax, F-44000 Nantes, France. Electronic address:
The association between primary hypobetalipoproteinemia and hepatic diseases: Evidence from genetic studies.
J Hepatol
January 2025
Department of Intensive Care Medicine, Shenzhen Baoan District People's Hospital, Shenzhen, China. Electronic address:
Reply to: "Primary hypobetalipoproteinemia as a risk factor for liver complications".
J Hepatol
September 2024
Nantes Université, CHU Nantes, CNRS, Inserm, l'institut du thorax, F-44000 Nantes, France. Electronic address:
Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1.
J Atheroscler Thromb
July 2024
Cardiovascular Center, Osaka Medical and Pharmaceutical University.
Familial hypobetalipoproteinemia (FHBL) 1 is a rare genetic disorder with an autosomal codominant mode of inheritance and is caused by defects in the apolipoprotein (apo) B (APOB) gene that disable lipoprotein formation. ApoB proteins are required for the formation of very low-density lipoproteins (VLDLs), chylomicrons, and their metabolites. VLDLs transport cholesterol and triglycerides from the liver to the peripheral tissues, whereas chylomicrons transport absorbed lipids and fat-soluble vitamins from the intestine.
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