A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-IGuastalla)
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- 作者：Livia Pisciotta ; MDa ; Cecilia Vitali ; PhDb ; Elda Favari ; PhDc ; Paola Fossa ; PhDd ; Maria Pia Adorni ; PhDc ; Daniela Leone ; PhDe ; Nathan Artom ; MDa ; Raffaele Fresa ; LabTecha ; Laura Calabresi ; PhDb ; Sebastiano Calandra ; MDf ; sebcal@unimore.it" class="auth_mail" title="E-mail the corresponding author ; Stefano Bertolini ; MDa ; stefbert@unige.it" class="auth_mail" title="E-mail the corresponding author
- 关键词：APOA1 mutation ; Truncated apoA-I ; Hypertriglyceridemia ; Metabolic syndrome ; β-thalassemia trait
- 刊名：Journal of Clinical Lipidology
- 出版年：2015
- 出版时间：November-December 2015
- 年：2015
- 卷：9
- 期：6
- 页码：837-846
- 全文大小：761 K
文摘
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A boy with hypertriglyceridemia, metabolic syndrome, and HDL-deficiency is described.
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No mutations were found in LPL, APOC2, APOA5, GPIHBP1, and LMF1 genes.
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The patient carries a novel APOA1 mutation producing a truncated protein.
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The truncated apoA-I was detectable in plasma in minute amounts.
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Patient's apoB-depleted serum has greatly reduced cholesterol efflux capacity.