부산대학교 도서관

Background: Fetal akinesia deformation sequence syndrome with a prevalence of 1 per 13:000 refers to a clinically and genetically heterogeneous disorder recognized by joint contractures, pterygia, fetal hydrops, dysmorphic features and lung hypoplasia's common features. Both genetic and parental/external environmental factors can result in this syndrome. DOK7 mutations will result in Fetal akinesia deformation sequence 3; the inheritance pattern of the named gene is AR and its protein has a major role as a signaling molecule necessary for neuromuscular junction.Methods: In this study, a couple who had three recurrent abortions were referred to the Genome laboratory of Isfahan in Iran. Pathological, immunological and hormonal tests were requested for the mother in the first stage, and also Giemsa banding karyotype were requested for the father and mother. Next, array comparative genomic hybridization (array CGH) was requested for the aborted fetus sampling, and whole-exome sequencing was done to mutation analysis.Results: Here, for the first time we report a case which contains novel homozygote mutation NM_173660:exon4:c.G481A:p.G161R in DOK7 gene locates on 4p16.3 as a novel mutation of the DOK7 gene that is a pathogenic variant and may play an important role in Fetal akinesia deformation sequence 3.Conclusion: Homozygote mutation NM_173660:exon4:c.G481A:p.G161R in DOK7 gene as a pathogenic variant may play an important role in Fetal akinesia deformation sequence 3 that directly results in recurring miscarriage.