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

Autor:	Peláez Chomba MS; Departamento de Gineco Obstetricia, Hospital Nacional Docente Madre Niño San Bartolomé, Lima, Lima, Cercado de Lima 15001, Peru., Vásquez Gómez GR; Departamento de Gineco Obstetricia, Hospital Nacional Docente Madre Niño San Bartolomé, Lima, Lima, Cercado de Lima 15001, Peru., Sullcahuaman Allende YC; Instituto de Investigación Genómica, IGENOMICA, Lima, Lima, San Borja 15037, Peru.; School of Medicine, Universidad Peruana Cayetano Heredia, Lima, Lima, San Martin de Porres 15102, Peru., Mendoza Fernández JC; Unidad Funcional de Genética y Biología Molecular, Instituto Nacional de Enfermedades Neoplásicas, Lima, Lima, Surquillo 15038, Peru., Purizaca Rosillo ND; Escuela Profesional de Medicina Humana, Universidad Privada San Juan Bautista, Ica, Ica, Subtanjalla 11004, Peru., Zevallos A; Escuela Profesional de Medicina Humana, Universidad Privada San Juan Bautista, Lima, Lima, Chorrillos 15067, Peru., Cruzate Cabrejos VL; Departamento de Gineco Obstetricia, Hospital Nacional Docente Madre Niño San Bartolomé, Lima, Lima, Cercado de Lima 15001, Peru.; Escuela Profesional de Medicina Humana, Universidad Privada San Juan Bautista, Lima, Lima, Chorrillos 15067, Peru.
Jazyk:	angličtina
Zdroj:	F1000Research [F1000Res] 2023 Oct 30; Vol. 12, pp. 603. Date of Electronic Publication: 2023 Oct 30 (Print Publication: 2023).
DOI:	10.12688/f1000research.131094.3
Abstrakt:	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. Competing Interests: No competing interests were disclosed. (Copyright: © 2023 Peláez Chomba MS et al.)
Databáze:	MEDLINE
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