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
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