FKBP10 Mutations Cause Osteogenesis Imperfecta and Bruck Syndrome
Author Information
Author(s): Kelley Brian P, Malfait Fransiska, Bonafe Luisa, Baldridge Dustin, Homan Erica, Symoens Sofie, Willaert Andy, Elcioglu Nursel, Van Maldergem Lionel, Verellen-Dumoulin Christine, Gillerot Yves, Napierala Dobrawa, Krakow Deborah, Beighton Peter, Superti-Furga Andrea, De Paepe Anne, Lee Brendan
Primary Institution: Baylor College of Medicine
Hypothesis
Can mutations in FKBP10 lead to recessive osteogenesis imperfecta and Bruck syndrome?
Conclusion
FKBP10 mutations are confirmed as a cause of recessive osteogenesis imperfecta and Bruck syndrome.
Supporting Evidence
- Five families with osteogenesis imperfecta-like symptoms were found to have FKBP10 mutations.
- Patients exhibited bone fragility and congenital contractures.
- Diagnosis of Bruck syndrome was based on clinical and laboratory findings.
Takeaway
Some people have a condition that makes their bones very fragile because of a problem in a gene called FKBP10, which can also cause joint issues.
Methodology
67 patients were screened for FKBP10 mutations based on family history and clinical features, followed by DNA sequencing.
Limitations
The study may not cover all genetic causes of osteogenesis imperfecta and Bruck syndrome.
Participant Demographics
Included consanguineous families from Turkey, South Africa, and Mexico.
Digital Object Identifier (DOI)
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