Li Yakun, Hu Man, Han Lin, Feng Lifang, Yang Luhong, Chen Xiaoqian, Du Tingting, Yao Hui, Chen Xiaohong
Department of Endocrinology and Metabolism, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Running Gene Inc., Beijing, China.
Front Genet. 2022 Mar 3;13:831133. doi: 10.3389/fgene.2022.831133. eCollection 2022.
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 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 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 mutation spectrum of disease LPLD, thereby offering exhaustive and valuable experience on early diagnosis and proper medication of LPLD.
脂蛋白脂肪酶缺乏症（LPLD）是一种罕见疾病，其特征为乳糜微粒血症早发并伴有蓄积。常见症状包括腹痛、肝脾肿大、疹性黄瘤和视网膜脂血症。严重并发症包括急性胰腺炎。基因是LPLD的致病因素之一。在此，我们报告了对一名无症状的3.5个月大中国女婴的诊治经验，该女婴仅有乳糜血。进行了全外显子组测序，在基因中鉴定出一对复合杂合突变，即c.862G>A（p.A288T）和c.461A>G（p.H154R）。这两个变异均被预测为“有害”，并被归类为“可能致病”。本研究扩展了疾病LPLD的基因突变谱，从而为LPLD的早期诊断和合理用药提供了详尽且有价值的经验。
