Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2

• Autores: Pelaez-Chomba, MS, Vasquez-Gomez, GR, Sullcahuaman-Allende, YC, Mendoza-Fernandez, JC, Purizaca-Rosillo, ND, Zevallos, A, Cruzate Cabrejos, VL
• Formato: artículo
• Fecha de Publicación: 2023
• Institución: Instituto Nacional de Enfermedades Neoplásicas
• Repositorio: INEN-Institucional
• Lenguaje: inglés
• OAI Identifier: oai:repositorio.inen.sld.pe:20.500.14703/195
• Enlace del recurso: https: //doi.org/10.12688/f1000research.131094.3; https://hdl.handle.net/20.500.14703/195
• Nivel de acceso: acceso abierto
• Materia: newborn; Osteogenesis imperfecta; prenatal diagnosis; https://purl.org/pe-repo/ocde/ford#3.02.21

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.