SIL1基因变异所致常染色体隐性Marinesco-Sj?gren综合征2例  

Two Cases of Autosomal Recessive Marinesco-Sj gren Syndrome Caused by SIL1 Gene Mutations

作　　者：齐展[1] 郭若兰 胡旭昀 郭俊 郝婵娟 QI Zhan;GUO Ruolan;HU Xuyun;GUO Jun;HAO Chanjuan(Genetics and Birth Defects Control Center,Beijing Children′s Hospital,Capital Medical University,Beijing Key Laboratory for Genetics of Birth Defects,Beijing 100045,China)

机构地区：[1]首都医科大学附属北京儿童医院出生缺陷遗传学研究室、出生缺陷遗传学研究北京市重点实验室,北京100045

出　　处：《罕见病研究》2024年第3期358-362,共5页Journal of Rare Diseases

基　　金：首都医学发展科研基金自主创新项目(2022-2-1142)。

摘　　要：Marinesco-Sj gren综合征(MSS)是一种罕见的常染色体隐性遗传病,以小脑共济失调、早发型白内障、慢性肌病、不同程度的智力残疾和运动发育迟缓为特征。患者还可表现出身材矮小、促性腺激素过低和肌肉无力导致的骨骼畸形等症状。本文报道2例表现为全面发育迟缓的MSS患儿临床与分子诊断过程,分别检出SIL1基因复合杂合致病变异c.109delG(p.Glu37Serfs*4)、意义未明变异c.353G>C(p.Arg118Thr)和c.443delA(p.Lys148Argfs*10)、可能致病变异c.707A>G(p.Asn236Ser)。明确分子诊断后,予以遗传咨询,评估患儿父母再生育风险。本文通过典型病例报道及既往文献回顾,以期提高临床医生对该疾病的认识,并为该病的诊断提供借鉴。Marinesco-Sj gren syndrome(MSS)is a rare autosomal recessive inherited disease characterized by cerebellar ataxia,early-onset cataracts,chronic myopathy,and intellectual disability and developmental delay at varied degrees.Some patients may manifest such symptoms as short stature,hypergonadotropic hypogonadism,various skeletal abnormalities resulted from the muscular weakness,and others.This article reports the clinical and molecular diagnosis process of two MSS cases with global developmental delay.We found the compound heterozygous variants c.109delG(p.Glu37Serfs*4)and c.353G>C(p.Arg118Thr),c.443delA(p.Lys148Argfs*10)and c.707A>G(p.Asn236Ser)by Trio-whole exome sequencing(Trio-WES)which are evaluated as pathogenic,and uncertain significant,pathogenic and likely pathogenic variants separately.We provided genetic consultation based on the molecular diagnosis and evaluated the risk for the offsprings in the families.By introducing the two cases and literature review,this article aims at improving the understanding of MSS and providing reference to the diagnosis of the disease.

关 键 词：罕见病 Marinesco-Sj gren综合征 SIL1基因 外显子组测序 

分 类 号：R725.9[医药卫生—儿科]