摘要
2022年7月13日于广东医科大学附属医院内分泌科门诊收集一例11岁男性患儿(临床表现为多发皮下结节,实验室检查示高胆固醇血症,结节病理诊断为皮肤黄色瘤)及其父母的临床信息。提取患儿外周血DNA,对ABCG5/8和APOB基因进行全外显子组测序,并采用Sanger测序对候选突变位点进行家系验证与变异分析。结果显示,患儿ABCG5存在两处杂合突变,chr2:44053544位点c.751C>T(p.Gln251Ter)为已知致病突变,父亲未见该变异,母亲也未携带该突变;chr2:44051187位点c.1189G>C(p.Gly397Arg)经家系验证源自母亲,且为首次报道的新发突变。研究证实,ABCG5基因c.751C>T(p.Gln251Ter)、c.1189G>C(p.Gly397Arg)复合杂合突变为患儿临床表型的病因。
On July 13,2022,clinical information was collected from an 11-year-old male proband(presenting with multiple subcutaneous nodules,laboratory findings indicating hypercholesterolemia,and pathologically confirmed cutaneous xanthoma)and his parents at the outpatient clinic of the Department of Endocrinology,Affiliated Hospital of Guangdong Medical University.Genomic DNA was extracted from the proband's peripheral blood.Whole-exome sequencing was performed targeting the ABCG5,ABCG8,and APOB genes,and candidate variants were validated through familial segregation analysis using Sanger sequencing.Two heterozygous mutations were identified in the ABCG5 gene of the proband:c.751C>T(p.Gln251Ter)at chr2:44053544,a known pathogenic variant that was absent in both parents;c.1189G>C(p.Gly397Arg)at chr2:44051187,a novel mutation inherited from the mother and reported here for the first time.This study confirmed that the compound heterozygous mutations c.751C>T(p.Gln251Ter)and c.1189G>C(p.Gly397Arg)in the ABCG5 gene are the genetic cause underlying the proband's clinical phenotype of sitosterolemia.
作者
刘裕晓
武革
LIU Yu-xiao;WU Ge(Department of Endocrinology,the Second Affiliated Hospital of Guangdong Medical University,Zhanjiang 524003,Guangdong,CHINA;Department of Endocrinology,Affiliated Hospital of Guangdong Medical University,Zhanjiang 524001,Guangdong,CHINA)
出处
《海南医学》
2025年第24期3619-3623,共5页
Hainan Medical Journal
基金
广东医科大学附属第二医院自发研究项目(编号:KT2024-146)。
