SMARCAL1基因新发突变相关的Schimke免疫-骨发育不良1例报告  

Schimke Immuno-osseous Dysplasia Associated with a Novel Mutation in the SMARCAL1 Gene:a Case Report

作　　者：张蝶 吕玲[1] ZHANG Die;L Ling(Department of Endocrinology,Tianjin Children’s Hospital,Tianjin University Children’s Hospital,Tianjin Pediatric Research Institute,Tianjin Key Laboratory for Prevention and Treatment of Birth Defects,Tianjin 300074,China)

机构地区：[1]天津市儿童医院、天津大学儿童医院内分泌科,天津市儿科研究所、天津市儿童出生缺陷防治重点实验室,天津300074

出　　处：《实用临床医学（江西）》2023年第4期41-44,63,共5页Practical Clinical Medicine

基　　金：天津市医学重点学科(专科)建设项目资助(TJYXZDXK-040A)。

摘　　要：目的为Schimke免疫-骨发育不良(SIOD)患儿的诊断提供更多的临床资料及基因数据。方法对1例临床表现为短躯干型矮身材、胸廓畸形、特殊面容、皮肤色素沉着斑,实验室检查提示存在肾病综合征,影像学检查发现脊柱椎体变扁、椎间隙变窄、脑血管静脉发育异常,疑似Schimke免疫-骨发育不良(SIOD)的5岁患儿进行全外显子基因学分析。提取患儿及其父母外周血基因组的DNA,然后通过末端修复、接头连接和PCR扩增技术,对患儿及父母的相关基因进行测序。结果基因检测提示存在SMARCAL1基因突变,为复合杂合突变,突变位点分别为c.1334+1G>A和c.1866G>A,分别来源于患儿父母,c.1334+1G>A为既往报道的剪接突变,c.1866G>A(p.W622X)为未报道的错义突变。结论以“矮小”就诊的患儿,如合并肾功能损害、骨骺发育异常、特殊面容、皮肤色素沉着等临床表现,需警惕SIOD可能,明确诊断需基于基因学检测结果及临床症状。Objective To provide more clinical and genetic data for the diagnosis of Schimke immuno-osseous dysplasia(SIOD)in children.Methods Whole-exome sequencing analysis was performed in a 5-year-old child with suspected SIOD.The child presented with short trunk stature,chest deformity,special facial features,and skin pigmentation spots.The laboratory examination showed nephrotic syndrome,and the imaging findings displayed flattened vertebral body,narrowed intervertebral space and abnormal cerebrovascular veins.Genomic DNA was extracted from the peripheral blood samples of the child and his parents,and the related genes were sequenced through terminal repair,splice connection and PCR amplification.Results Genetic testing showed a SMARCAL1 gene mutation that was a compound heterozygous mutation.The mutation sites were c.1334+1G>A and c.1866G>A,which were from the parents of the child,respectively.The c.1334+1G>A was a previously reported splice mutation,and the c.1866G>A(p.W622X)was an unreported missense mutation.Conclusion The possibility of SIOD should be considered if children diagnosed with“dwarfism”have clinical manifestations such as renal dysfunction,abnormal epiphyseal development,special facial features and skin pigmentation.The definitive diagnosis should be based on genetic test results and clinical symptoms.

关 键 词：Schmike免疫-骨发育不良 矮身材 SMARCAL1基因 新突变位点 

分 类 号：R725.9[医药卫生—儿科]