A case of Antley-Bixler syndrome caused by novel POR mutations / 中华医学遗传学杂志

ABSTRACT

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.