A novel frameshift RPL15 gene variant associated with hydrops fetalis and perinatal death.

A novel heterozygous frameshift RPL15 gene variant is linked to fetal hydrops, IUGR, and perinatal death in DBA12, with a significant reduction in RPL15 protein levels.

• Why it matters: Understanding the genetic causes of fetal demise and associated anomalies can improve diagnosis and management of DBA12 and related conditions.
• What they did: Researchers performed trio-based whole-exome sequencing on fetal and parental samples, constructed mutant and control RPL15 vectors, and assessed gene and protein expression in HEK293T cells, along with literature review of RPL15-related cases.
• The result: The study identified a novel RPL15 c.227del variant causing decreased mRNA and protein levels, mRNA decay, and haploinsufficiency, expanding the mutational and clinical spectrum of DBA12.