类脂性先天性肾上腺皮质增生症合并甲基丙二酸尿症1例患儿的临床特点及基因突变分析  

Clinical features and genetic analysis of a case with lipoid congenital adrenal hyperplasia and methylmalonic aciduria

作　　者：林晓彤 崔迪 刘玉娟[3] 杨阳 李忠良[2] LIN Xiaotong;CUI Di;LIU Yujuan;YANG Yang;LI Zhongliang(Affiliated Hospital of Weifang Medical University,School of Clinical Medicine,Weifang Medical University,Weifang,Shandong 261000,China;Newborns in Weifang Maternal and Child Health Hospital,Weifang,Shandong 261000,China;Weifang Maternal and Child Health Hospital Center Supply Room,Weifang,Shandong 261000,China;Beijing Joy Orient Translational Medicine Research Center Co.,Ltd.,Beijing 100023,China)

机构地区：[1]潍坊医学院附属医院/临床医学院/潍坊医学院,山东潍坊261000 [2]潍坊市妇幼保健院新生儿科,山东潍坊261000 [3]潍坊市妇幼保健院中心供应室,山东潍坊261000 [4]北京智因东方转化医学研究中心有限公司,北京100023

出　　处：《中国优生与遗传杂志》2023年第8期1664-1668,共5页Chinese Journal of Birth Health & Heredity

摘　　要：目的 通过分析1例STAR基因合并MMUT基因突变导致类脂性先天性肾上腺皮质增生症合并甲基丙二酸尿症患儿的病例资料,为相似疾病诊治提供参考。方法 回顾分析患儿临床资料,采集患儿及其父母外周血,应用trio全外显子组测序及Sanger测序技术对患儿遗传学特点进行分析。结果 患儿典型临床特征为转氨酶升高,总胆红素升高,总胆汁酸升高,皮肤色素重。经全外显子组测序技术发现患儿同时携带STAR与MMUT基因的复合杂合突变:STAR基因,c.135delT(p.S46Afs*18)与c.772C>T(p.Q258*);MMUT基因,c.1208G>A(p.R403Q)与c.729_730insTT(p.D244Lfs*39),分别来源于其表型正常的父母。目前为止,国内未见同时携带两个致病基因突变的案例被报道。结论 STAR与MMUT基因的复合杂合突变可能是该患儿的致病原因。Objective To analyze the medical record date of a child with lipoid congenital adrenal hyperplasia(LCAH)and methylmalonic aciduria(MMA)that caused by variants of STAR and MMUT genes,respectively.Providing basis for clinical diagnosis and treatment of the disease.Methods The clinical data of this child were analyzed retrospectively.Collect-ing peripheral blood of the child and their parents,Trio whole exome sequencing and Sanger sequencing were used for genetic analysis.Results The typical clinical features of the patient are elevated transaminase,elevated total bilirubin,ele-vated total bile acid and dark skin color:Genetic analysis showed that the patient carried compound heterozygous vari-ants of the STAR and MMUT genes:STAR gene,c.135delT(p.S46Afs*18)and c.772C>T(p.Q258*).MMUT genec,1208G>A(p.R403Q)and c.729_730insTT(p.D244Lfs*39),which were inherited from the patient’s healthy father and mother,respec-tively.No cases carrying pathogenicvariants in both two genes has been reported in China so far.Conclusion The compound heterozygous variants of STAR and MMUT genes may be the causative agent of the patient,respectively.

关 键 词：类脂性先天性肾上腺皮质增生症 STAR基因 甲基丙二酸尿症 MMUT基因 

分 类 号：R725.8[医药卫生—儿科]