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PTBP3 Associated With 9q32 Locus Is a Candidate Gene for Nager Syndrome
Jose Antonio Gonzalez1, Arun Devotta1, Chang-Soo Hong2
1Department of Molecular Pathobiology, College of Dentistry, New York University, New York, New York, USA.
Birth Defects Research
|August 18, 2025
Summary
Mutations in SF3B4 cause Nager syndrome, but some cases remain unexplained. This study identifies PTBP3 as a potential cause for Nager syndrome in patients without SF3B4 mutations, highlighting its role in craniofacial development.
Area of Science:
- Genetics
- Developmental Biology
- Molecular Medicine
Background:
- Mandibulofacial dysostosis (MFD) involves facial bone defects.
- Nager syndrome links MFD with limb abnormalities.
- SF3B4 gene mutations explain ~60% of Nager syndrome cases.
Purpose of the Study:
- Investigate novel genetic causes of Nager syndrome.
- Analyze the role of PRPF4 and PTBP3 in craniofacial development.
- Explore PTBP3 as a potential Nager syndrome-associated gene.
Main Methods:
- Utilized Xenopus laevis and Xenopus tropicalis models.
- Performed loss-of-function experiments for PRPF4 and PTBP3.
- Analyzed gene expression and craniofacial cartilage development.
Main Results:
- PTBP3 is essential for neural crest gene expression and craniofacial cartilage development in Xenopus.
- Loss of Ptbp3 function phenocopies Sf3b4 defects.
- PTBP3 expression increases in SF3B4 deficient embryos.
Conclusions:
- PTBP3 plays a critical role in craniofacial development.
- PTBP3 dysregulation is a potential cause of Nager syndrome in SF3B4-negative patients.
- Identified a novel genetic link for Nager syndrome.
