【摘要】 目的探讨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)Exon8c.1444delC p.(Leu482fs)杂合突变,致病突变。更多还原

【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 de velopment 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.1930 C >Tp.(Arg644 Trp);SMARCAL1(NM-014140.3) Exon8 c.1444 del C p.(Leu482 fs) is short stature in imbalanced ratio.更多还原