AUTHOR=Li Yakun , Hu Man , Han Lin , Feng Lifang , Yang Luhong , Chen Xiaoqian , Du Tingting , Yao Hui , Chen Xiaohong TITLE=Case Report: Next-Generation Sequencing Identified a Novel Pair of Compound-Heterozygous Mutations of LPL Gene Causing Lipoprotein Lipase Deficiency JOURNAL=Frontiers in Genetics VOLUME=13 YEAR=2022 URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.831133 DOI=10.3389/fgene.2022.831133 ISSN=1664-8021 ABSTRACT=

Lipoprotein lipase deficiency (LPLD) is a rare disease characterized by the accumulation of chylomicronemia with early-onset. Common symptoms are abdominal pain, hepatosplenomegaly, eruptive xanthomas and lipemia retinalis. Serious complications include acute pancreatitis. Gene LPL is one of causative factors of LPLD. Here, we report our experience on an asymptomatic 3.5-month-old Chinese girl with only milky blood. Whole-exome sequencing was performed and identified a pair of compound-heterozygous mutations in LPL gene, c.862G>A (p.A288T) and c.461A>G (p.H154R). Both variants are predicted “deleterious” and classified as “likely pathogenic”. This study expanded the LPL mutation spectrum of disease LPLD, thereby offering exhaustive and valuable experience on early diagnosis and proper medication of LPLD.