Liu_2020_Front.Genet_11_741

Reference

Title : Analysis of a Chinese Pedigree With Familial Chylomicronemia Syndrome Reveals Two Novel LPL Mutations by Whole-Exome Sequencing - Liu_2020_Front.Genet_11_741
Author(s) : Liu Y , Lan Z , Zhao F , Zhang S , Zhang W
Ref : Front Genet , 11 :741 , 2020
Abstract :

Familial chylomicronemia syndrome (FCS) is a rare monogenic autosomal recessive disease caused by loss-of-function mutations in genes involved in chylomicron breakdown through hydrolysis of triglycerides into free fatty acids. Patients are often diagnosed in early childhood with extremely high triglyceride levels and symptoms including abdominal pain, eruptive cutaneous xanthomata, hepatosplenomegaly, and significant cognitive, psychological, and social impairment. The most serious medical condition suffered by FCS patients is recurrent acute pancreatitis. Lipoprotein lipase (LPL) gene mutation accounts for majority of the known pathogenic mutations. Early diagnosis and strict low-fat diet are critical for successful management of the triglyceride concentration to lower the risk of pancreatitis. The true prevalence of FCS in China is unknown and here we report a Chinese female preterm neonate presented with an extremely high triglyceride level of 22.11 mmol/L on day 13 after birth. Clinical and laboratory workup including whole-exome sequencing revealed two novel compound heterozygous LPL mutations (c.406G > C and c.829G > C) that are co-segregated with her non-consanguineous parents, consistent with autosomal recessive inheritance. A diagnosis of FCS based on clinical, biochemical, and genetic ground was made to guide her management.

PubMedSearch : Liu_2020_Front.Genet_11_741
PubMedID: 32765589
Gene_locus related to this paper: human-LPL

Related information

Gene_locus human-LPL
Disease human-LPL    Hyperlipoproteinemia TypeI

Citations formats

Liu Y, Lan Z, Zhao F, Zhang S, Zhang W (2020)
Analysis of a Chinese Pedigree With Familial Chylomicronemia Syndrome Reveals Two Novel LPL Mutations by Whole-Exome Sequencing
Front Genet 11 :741

Liu Y, Lan Z, Zhao F, Zhang S, Zhang W (2020)
Front Genet 11 :741