Mutations in UBR1 and Johanson-Blizzard Syndrome
Author Information
Author(s): Hwang Cheol-Sang, Sukalo Maja, Batygin Olga, Addor Marie-Claude, Brunner Han, Aytes Antonio Perez, Mayerle Julia, Song Hyun Kyu, Varshavsky Alexander, Zenker Martin
Primary Institution: California Institute of Technology
Hypothesis
The study investigates the role of UBR1 mutations in causing Johanson-Blizzard Syndrome (JBS).
Conclusion
The study confirms that specific missense mutations in UBR1 are associated with milder variants of Johanson-Blizzard Syndrome.
Supporting Evidence
- Missense mutations in UBR1 were found in patients with milder forms of JBS.
- Patients with severe JBS had mutations that likely abolished UBR1 activity.
- Yeast models demonstrated varying activities of UBR1 mutants corresponding to patient mutations.
Takeaway
Some kids with Johanson-Blizzard Syndrome have milder symptoms because their UBR1 gene has small changes instead of big ones that completely stop it from working.
Methodology
The study involved analyzing UBR1 mutations in patients with Johanson-Blizzard Syndrome and testing the effects of these mutations in yeast models.
Limitations
The study is limited by the small sample size and the focus on specific mutations without exploring the full range of UBR1 mutations.
Participant Demographics
Patients were sporadic cases born to healthy unrelated parents of European origin.
Digital Object Identifier (DOI)
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