Antley-Bixler syndrome arising from compound heterozygotes in the P450 oxidoreductase gene: a case report.

ABSTRACT: Antley-Bixler syndrome (ABS) arising from P450 oxidoreductase deficiency (PORD) is a rare, distinct craniosynostosis syndrome, accompanied by ambiguous genitalia and impaired steroidogenesis. It is reported that this disorder is caused by mutations in the P450 oxidoreductase (POR; OMIM #124015) gene via autosomal recessive inheritance. In this study, we performed a molecular analysis to verify the genetic etiology of ABS in an infant. Initially, medical exome sequencing was applied using the parents' peripheral blood genome DNA. Next, bidirectional Sanger sequencing and quantitative real-time PCR (qRT-PCR) were conducted to confirm the sequencing results. The infant was diagnosed as ABS at birth, with typical midface hypoplasia, craniosynostosis, femoral bowing, radio-ulnar synostos

SUBMITTER: Li H 

PROVIDER: S-EPMC8753478 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature