SMARCAL1基因突变所致生长发育障碍的临床表现及基因分析

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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

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	Articles by authors
	CHEN Hua-qin
	PAN Si-nian
	LIU Ying-yan
	CHEN Bai-xue
	ZUO Ke-yang

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CHEN Hua-qin,PAN Si-nian,LIU Ying-yan, et al. Clinical manifestations and gene analysis of growth and development disorder caused by SMARCAL1 gene mutation[J]. 中国当代医药, 2018, 25(22): 54-56转59.

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http://dangdaiyiyao.com/EN/ OR http://dangdaiyiyao.com/EN/Y2018/V25/I22/54

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