1例SEC24D基因纯合变异致Cole-Carpenter综合征2型胎儿的临床特征与遗传学分析OA

Cole-Carpenter syndrome type 2(CLCRP2)is an autosomal recessive disorder associated with low bone mass or osteogenesis imperfecta-like syndrome.The pathogenic gene is SEC24 homolog D,COPII coat complex component(SEC24D).This article reports a case of the clinical and genetic characteristics of a fetus with CLCRP2 caused by a SEC24D gene variant.Prenatal ultrasound of this fetus indicated shortened,thickened,and angulated long bones in the fetal limbs,presenting a"telephone receiver"appearance.trio-WES indicated that the fetus had a homozygous variant of SEC24D gene c.113_114insC(p.T39fs * 16),and the parents were carriers of this variant site.The associated disease was determined to be CLCRP2.Furthermore,by reviewing previously reported cases related to SEC24D gene variants,this article analyzes the genotype-phenotype correlation of CLCRP2 and confirms that this case is the first perinatally diagnosed CLCRP2 case in China.The detection of the homozygous SEC24D c.113_114insC(p.Thr39fs*16)variant can provide a basis for the early diagnosis of CLCRP2 and for the reproductive decision-making of the parents.