【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。更多还原

【Abstract】 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. Collecting 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, elevated total bile acid and dark skin color: Genetic analysis showed that the patient carried compound heterozygous variants 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, respectively. 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.更多还原