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

Massimiliano Esposito1, Francesco Sessa2, Chiara Nannola3

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Summary

Sudden unexpected postnatal collapse (SUPC) in newborns is rare and often fatal. A case study identified compound heterozygous mutations in the BUB1B gene, potentially linked to SUPC, but further research is needed to confirm causality.

Keywords:
AutopsyBUB1B mutationMosaic variegated aneuploidy syndromeSudden unexpected postnatal collapse

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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.