Abstract
Nail patella syndrome (NPS) has been shown to result from loss of function mutations within the transcription factor LMX1B. In a large NPS family a 17bp intronic deletion encompassing a consensus branchpoint sequence was observed to segregate with the NPS phenotype. RNA analysis demonstrated that deletion of the branchpoint sequence resulted in skipping of the downstream exon. A mechanism to explain this phenomenon is presented.
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Hamlington, J., Clough, M., Dunston, J. et al. Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome. Eur J Hum Genet 8, 311–314 (2000). https://doi.org/10.1038/sj.ejhg.5200448
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DOI: https://doi.org/10.1038/sj.ejhg.5200448