陈华琴　潘思年　刘颖妍

[摘要]目的 探討SMARCAL1基因突变所致生长发育障碍患者的临床表现及基因突变特点。方法 分析在江门市中心医院就诊的1例生长发育障碍儿童的临床特点，用直接测序+MLPA，发现致病基因，并对该基因外显子直接测序，对该患儿的父母进行验证，进而分析获得基因结果。结果 该例SMARCAL1基因突变的患儿主要表现为生长发育障碍，高额头，耳位低，颈短，躯干短，躯干部主要是腹部皮肤可见数十个咖啡牛奶斑，直径为0.3～0.4 cm，周围皮肤正常，腹部膨隆，脊椎椎体发育欠佳，骨盆成骨不良，髋关节半脱位，T淋巴细胞缺陷。结论 该例SMARCAL1基因突变所致生长发育障碍患儿特征表现为比例失调的身材矮小，SMARCAL1基因（NM014140.3）Exon12，c.1930C>T p.（Arg644Trp）；SMARCAL1（NM-014140.3）Exon8 c.1444delC p.（Leu482fs）杂合突变，致病突变。

[关键词]SMARCAL1；生长障碍；突变；基因

[中图分类号] R726.91 [文献标识码] A [文章编号] 1674-4721（2018）8（a）-0054-04

Clinical manifestations and gene analysis of growth and development disorder caused by SMARCAL1 gene mutation

CHEN Hua-qin1 PAN Si-nian2 LIU Ying-yan3 CHEN Bai-xue4 ZUO Ke-yang5

1. Department of Pediatric Internal Medicine， Jiangmen Central Hospital（Affiliated Jiangmen Hospital of Sun Yat-sen University）， Guangdong Province， Jiangmen 529030， China； 2. Department of Pediatric Internal Medicine， the Third Affiliated Hospital of Sun Yat-sen University， Guangdong Province， Guangzhou 510000， China； 3. Department of Health， Jiangmen Maternity and Child Health Care Hospital， Guangdong Province， Jiangmen 529000， China； 4. Guangzhou Jinyu Medical Examination Center Co.，Ltd.， Guangdong Province， Guangzhou 510000， China； 5. Department of Radiology， Jiangmen Central Hospital， Guangdong Province， Jiangmen 529030， China

[Abstract] Objective To investigate the clinical manifestations and the characteristics of gene mutations in pediatric patient with growth and development disorder caused by mutations in the SMARCAL1 gene. Methods The clinical manifestations of a child with growth and development disorder were analyzed in Jiangmen Central Hospital. The pathogenic gene was detected by direct sequencing+MLPA. The exons of the gene were sequenced directly. The child′s parents were verified and the genetic result was further analyzed. Results The child with mutations in the SMARCAL1 gene was mainly characterized by growth and development disorder such as high forehead， ears in low position， short neck， and short trunk. Dozens of coffee milk spots could be found in abdominal skin with diameters of 0.3-0.4 cm whose surrounding skin is normal and the abdomen is bulging. The development of spinal vertebral body and the pelvic bone were poor. The hip joint was in subluxation， and T lymphocyte was in defect. Conclusion In this case， the main manifestation of this child with growth and development disorder due to SMARCAL1 gene mutations such as （NM014140.3） Exon12，c.1930C>Tp.（Arg644Trp）；SMARCAL1（NM-014140.3） Exon8 c.1444delC p.（Leu482fs） is short stature in imbalanced ratio.

[Key words] SMARCAL1； Growth disorder； Mutation； Gene

SMARCAL1基因突变导致Schimke免疫骨发育不良（SIOD），是一种常染色体隐性遗传病，主要表现为生长发育迟缓、脊椎骨骺发育不良、局灶节段性肾小球硬化（FSGS），T细胞免疫缺陷和面部畸形，其他症状还包括脊柱前弯症、色素沉着、骨髓衰竭、贫血[1]。该病发病率为1∶3 000 000～1∶1 000 000。

1病历资料

患儿，男，年龄5岁1个月，因“生长缓慢3年余”于2017-03-28日就诊。患儿为1胎1产，早产儿，<胎龄儿（胎龄33周），出生体重1.3 kg，身高39 cm，无窒息抢救史。生后混合喂养至3月龄，以后人工喂养，6个月开始添加辅食。8个月会坐，15个月会独站，会叫人，20个月会跑，能说2～3字句子。自2岁开始出现生长缓慢，年生长速率约5 cm，活动多，智力与同龄儿无明显差别，精神饮食好，平素身体健康，无明显的遗传病、传染病史，无外伤手术史。父……