Analysis of a Chinese Pedigree With Familial Chylomicronemia Syndrome Reveals Two NovelLPLMutations by Whole-Exome Sequencing

Liu, Ying1; Lan, Zhangzhang2; Zhao, Fang1; Zhang, Shuangchuan1; Zhang, Wenyong2

2020-07-17

10.3389/fgene.2020.00741

Frontiers in Genetics   影响因子和分区

1664-8021

1664-8021

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 heterozygousLPLmutations (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.

Familial chylomicronemia syndrome ACUTE-PANCREATITIS LPL HYPERTRIGLYCERIDEMIA whole-exome sequencing DIAGNOSIS hypertriglyceridemia FRAMEWORK missense mutation BURDEN

SCI

英语

通讯

Genetics & Heredity

Genetics & Heredity

WOS:000555772200001

FRONTIERS MEDIA SA

Web of Science

1.Peking Univ, Dept Pediat, Shenzhen Hosp, Shenzhen, Peoples R China;
2.Southern Univ Sci & Technol, Sch Med, Shenzhen, Peoples R China

Liu, Ying,Lan, Zhangzhang,Zhao, Fang,et al. Analysis of a Chinese Pedigree With Familial Chylomicronemia Syndrome Reveals Two NovelLPLMutations by Whole-Exome Sequencing[J]. Frontiers in Genetics,2020,11.

Liu, Ying,Lan, Zhangzhang,Zhao, Fang,Zhang, Shuangchuan,&Zhang, Wenyong.(2020).Analysis of a Chinese Pedigree With Familial Chylomicronemia Syndrome Reveals Two NovelLPLMutations by Whole-Exome Sequencing.Frontiers in Genetics,11.

Liu, Ying,et al."Analysis of a Chinese Pedigree With Familial Chylomicronemia Syndrome Reveals Two NovelLPLMutations by Whole-Exome Sequencing".Frontiers in Genetics 11(2020).