Novel mutation in the ApoB Gene (Apo B-15.56): A Case Report

التفاصيل البيبلوغرافية
العنوان: Novel mutation in the ApoB Gene (Apo B-15.56): A Case Report
المؤلفون: Patrizia Tarugi, Antonio Vittorino Gaddi, Marilisa Bove, Lucio Carnevali, Arrigo F G Cicero
المساهمون: Bove M., Carnevali L., Cicero A., Tarugi P., Gaddi A.
المصدر: Balkan Journal of Medical Genetics, Vol 13, Iss 2, Pp 65-69 (2010)
سنة النشر: 2010
مصطلحات موضوعية: medicine.medical_specialty, Apolipoprotein B, Population, Genetic mutation, QH426-470, Exon, Insulin resistance, apolipoprotein b (apo-b), Internal medicine, medicine, Genetics, Familial hypobetalipoproteinemia, metabolic syndrome (ms), education, familial hypobetalipoproteinemia (fhbl), Genetics (clinical), Metabolic Syndrome, education.field_of_study, Apolipoprotein B (Apo-B), Familial hypobetalipoproteinemia (FHBL), Metabolic Syndrome (MS), biology, Fatty liver, Genetic disorder, medicine.disease, Obesity, Endocrinology, biology.protein, lipids (amino acids, peptides, and proteins), Metabolic syndrome
الوصف: Novel Mutation in theApobGene (Apo B-15.56): A Case ReportFamilial hypobetalipoproteinemia (FHBL) is a rare co-dominant genetic disorder characterized by decrease of plasma low density lipoprotein-cholesterol (LDL-c) or apolipoprotein B (Apo-B) equal to or less than the 5thpercentile for the population. We describe a 48-year-old male who presented with fatty liver disease (FLD), insulin resistance (IR), obesity and hypertension. Our patient thus met the latest diagnostic criteria of the metabolic syndrome (MS) proposed by the Adult Treatment Panel and the International Diabetes Federation. However, he had very low plasma concentration of LDL-c and Apo-B. DNA sequencing showed that he and two first-degree relatives affected by obesity and mild IR were heterozygous for a single nucleotide deletion on exon 15 of theAPOBgene, which was predicted to form a truncated Apo-B designated Apo B-15.56.
وصف الملف: STAMPA
اللغة: English
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf2044120c49a6989fff6347d650a6fe
http://hdl.handle.net/11585/106093
Rights: OPEN
رقم الانضمام: edsair.doi.dedup.....cf2044120c49a6989fff6347d650a6fe
قاعدة البيانات: OpenAIRE