Sudden unexpected postnatal collapse and BUB1B mutation: first forensic case report.

Area of Science:

• Genetics
• Neonatal Medicine
• Cell Biology

Background:

• Sudden unexpected postnatal collapse (SUPC) is a critical neonatal event with a poor prognosis.
• The BUB1B gene plays a vital role in maintaining chromosomal stability during cell division.
• Mutations in BUB1B are associated with mosaic variegated aneuploidy syndrome 1 (MVA1).

Observation:

• A term newborn experienced a sudden collapse within hours of birth, requiring intensive resuscitation and leading to a diagnosis of hypoxic-ischemic encephalopathy.
• Genetic analysis revealed compound heterozygous mutations in the BUB1B gene in the affected infant.
• The infant later died from sepsis secondary to bronchopneumonia, with hypoxic-ischemic encephalopathy as a contributing factor.

Findings:

• This case presents a potential association between BUB1B gene mutations and SUPC.
• The exact causal or concausal role of the identified BUB1B mutations in SUPC remains undetermined.
• The autopsy confirmed sepsis as the cause of death, with hypoxic-ischemic encephalopathy as an outcome.

Implications:

• Further multicenter studies and animal models are essential to elucidate the pathological effects of BUB1B mutations in SUPC.
• Understanding the genetic underpinnings of SUPC could lead to improved diagnostic and therapeutic strategies.
• This case highlights the complexity of neonatal critical events and the need for comprehensive genetic evaluation.