F1000Research (Oct 2023)

Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2 [version 3; peer review: 2 approved]

  • Yasser Ciro Sullcahuaman Allende,
  • Julio Cesar Mendoza Fernández,
  • Melissa Sindy Peláez Chomba,
  • Guillermo Raúl Vásquez Gómez,
  • Vicente Leandro Cruzate Cabrejos,
  • Nelson David Purizaca Rosillo,
  • Alejandra Zevallos

Journal volume & issue
Vol. 12

Abstract

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Osteogenesis imperfecta is considered a rare genetic condition which is characterized by bone fragility. In 85% of cases, it is caused by mutations in COL1A1 and COL1A2 genes which are essential to produce type I collagen. We report the case of a female neonate delivered to a 27-year-old women at San Bartolomé Teaching Hospital with a family history of clavicle fracture. A prenatal control with ultrasound was performed to the mother at 29 weeks. A fetus with altered morphology and multiple fractures was found. Therefore, a prenatal diagnosis of osteogenesis imperfecta was performed. The neonate was born with a respiratory distress syndrome and an acyanotic congenital heart disease. Therefore, she remained in NICU until her death. We highlight the importance of prenatal diagnosis, genetic counseling and a multidisciplinary evaluation in this type of pathologies and report a new probably pathogenic variant in the COL1A2 gene detected by exomic sequencing in amniotic fluid.

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