甲状腺激素受体相互作用物11基因变异所致软骨生成不全ⅠA型家系遗传学分析OACSTPCD

Achondrogenesis 1A is a rare and lethal disorder inherited in an autosomal recessive manner,which is associated with a variant of the thyroid hormone receptor interactor 11 gene(TRIP11)on human chromosome 14.In this study,skin tissues of a aborted fetus with suspected fatal skeletal dysplasia by ultrasonography and venous blood of its parents were collected,and fetal tissues and its parents were sequenced in parallel by extracting genomic DNA and applying whole exome sequencing technology.The suspected pathogenic variants were verified by Sanger sequencing.A literature review of previously reported genetic test results was also performed,and clinical characteristics of the disease were explored in the context of the literature review.The results identified a compound heterozygous variant c.790C＞T(p.R264*)/c.589-2A＞G detected in fetal TRIP11,originated respectively from the father and the mother,which is consistent with autosomal recessive inheritance.The compound heterozygous variants in the TRIP11 gene reported in this study have not yet been reported,broadening the spectrum of genetic variants in achondrogenesis 1A and providing an important molecular basis for genetic counseling and prenatal diagnosis in this family.