一例Antley-Bixler综合征患儿的POR基因突变研究

A case of Antley-Bixler syndrome caused by novel POR mutations

目的对1例多发畸形患儿进行遗传学分析,为该患儿的诊断和家系遗传咨询提供依据.方法提取患儿及其父母外周血DNA,进行tro全外显子测序、生物信息学分析,最后对可疑突变进行Sanger测序验证.结果患儿POR基因存在c.919G>T和c.1615G>A复合杂合突变,其中c.919G>T为无义突变,遗传自表型正常的母亲;c.1615G>A突变遗传自表型正常的父亲.结论应用tro全外显子测序明确了患儿为POR基因突变导致的Antley-Bixler综合征.

Objective To explore the genetic basis for a child affected with multiple malformations.Methods Genomic DNA was extracted from peripheral blood samples from the child and her parents.Tro whole exome sequencing and bioinformatics analysis were carried out.Suspicted mutations were verified by PCR and Sanger sequencing.Results The patient,a 2-year-old girl,presented with multiple malformations including dysmorphism,skeletal malformations and ambigulous genitalia.Through genetic testing,she was diagnosed with Antley-Bixler syndrome caused by compound heterozygous mutations of the POR gene(c.919G>T and c.1615G>A),which were derived from her mother and father,respectively.Conclusion The compound heterozygous mutations of the POR gene probably underlie the Antley-Bixler syndrome in this patient.