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

F1000Research · 11 authors, 10 centres

AI SUMMARY

FIDELITY 100%

This summary was generated by AI from a single paper. It has not been reviewed by a clinician and is not clinical advice. Verify against the source before acting on it.

AGENT 01 · STRUCTURED SUMMARY

TRACE TO SOURCE

“

TL;DR

The neonate died at 23 days of age.

Full summary

278 CHARS

This case report describes a female neonate born to a 27-year-old woman at San Bartolomé Teaching Hospital with a family history of clavicle fracture. The neonate developed respiratory distress syndrome and congenital heart disease, remained in NICU, and died at 23 days of age.

STUDY TYPE

case_report

SPECIALTY

pediatrics

SUMMARISED BY

AI pipeline

FIDELITY CHECK

100% · A

ORIGINAL PAPER

PMC10565417

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

F1000Research

READ THE FULL PAPER

ABSTRACT

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.

CITATION EXPORT

Melissa Sindy Peláez Chomba, Guillermo Raúl Vásquez Gómez, Yasser Ciro Sullcahuaman Allende et al.. Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in
COL1A2. F1000Research. (2023). https://doi.org/10.12688/f1000research.131094.3

AUTHORS

11 · 10 CENTRES

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

1Departamento de Gineco Obstetricia, Hospital Nacional Docente Madre Niño San Bartolomé, Lima, Lima, Cercado de Lima 15001, Peru
2Instituto de Investigación Genómica, IGENOMICA, Lima, Lima, San Borja 15037, Peru
3School of Medicine, Universidad Peruana Cayetano Heredia, Lima, Lima, San Martin de Porres 15102, Peru
4Unidad Funcional de Genética y Biología Molecular, Instituto Nacional de Enfermedades Neoplásicas, Lima, Lima, Surquillo 15038, Peru
5Escuela Profesional de Medicina Humana, Universidad Privada San Juan Bautista, Ica, Ica, Subtanjalla 11004, Peru
6Escuela Profesional de Medicina Humana, Universidad Privada San Juan Bautista, Lima, Lima, Chorrillos 15067, Peru
1University of Arkansas for Medical Sciences, Little Rock, AR, USA
1University of Arkansas for Medical Sciences, Little Rock, AR, USA
1University of Arkansas for Medical Sciences, Little Rock, AR, USA
1Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China