Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene
详细信息 查看全文
- 作者：Claudio Rabacchi ; PhDa ; Sergio D'Addato ; MDb ; Silvia Palmisano ; MDb ; Tiziano Lucchi ; MDc ; Stefano Bertolini ; MDd ; Sebastiano Calandra ; MDe ; Patrizia Tarugi ; PhDa ; tarugi@unimore.it" class="auth_mail" title="E-mail the corresponding author
- 关键词：Familial chylomicronemia ; Hypertriglyceridemia ; Pancreatitis ; Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1)
- 刊名：Journal of Clinical Lipidology
- 出版年：2016
- 出版时间：July-August 2016
- 年：2016
- 卷：10
- 期：4
- 页码：915-921.e4
- 全文大小：980 K
文摘
- •
Two siblings and a third patient with severe hypertriglyceridemia were investigated.
- •
They were found to be homozygous for 2 mutations in GPIHBP1 gene.
- •
The mutations involved 2 cysteine residues of the Ly6 domain of GPHHBP1.
- •
The p.(Cys83Arg) is a novel mutation predicted to disrupt GPIHBP1 structure.
- •
The reported p.(Cys89*) mutation results in a truncated protein devoid of function.
- •
The p.(Cys83Arg) heterozygous carriers had normal plasma triglyceride level.