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
Affiliations
Yasser Ciro Sullcahuaman Allende
Instituto de Investigación Genómica, IGENOMICA, Lima, Lima, San Borja 15037, Peru
Julio Cesar Mendoza Fernández
Unidad Funcional de Genética y Biología Molecular, Instituto Nacional de Enfermedades Neoplásicas, Lima, Lima, Surquillo 15038, Peru
Melissa Sindy Peláez Chomba
Departamento de Gineco Obstetricia, Hospital Nacional Docente Madre Niño San Bartolomé, Lima, Lima, Cercado de Lima 15001, Peru
Guillermo Raúl Vásquez Gómez
Departamento de Gineco Obstetricia, Hospital Nacional Docente Madre Niño San Bartolomé, Lima, Lima, Cercado de Lima 15001, Peru
Vicente Leandro Cruzate Cabrejos
Departamento de Gineco Obstetricia, Hospital Nacional Docente Madre Niño San Bartolomé, Lima, Lima, Cercado de Lima 15001, Peru
Nelson David Purizaca Rosillo
Escuela Profesional de Medicina Humana, Universidad Privada San Juan Bautista, Ica, Ica, Subtanjalla 11004, Peru
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.
