Publication: Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome
Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome
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VanSickle, E. A., Michael, J., Bachmann, A. S., Rajasekaran, S., Prokop, J. W., Kuzniecky, R., Hofstede, F. C., Steindl, K., Rauch, A., Lipson, M. H., & Bupp, C. P. (2021). Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome. American Journal of Medical Genetics. Part A, 185(11), 3485–3493. https://doi.org/10.1002/ajmg.a.62473
Abstract
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Abstract
Bachmann-Bupp syndrome (BABS) is a rare syndrome caused by gain-of-function variants in the C-terminus of ornithine decarboxylase (ODC coded by the ODC1 gene). BABS is characterized by developmental delay, macrocephaly, macrosomia, and an unusual pattern of non-congenital alopecia. Recent diagnosis of four more BABS patients provides further characterization of the phenotype of this syndrome including late-onset seizures in the oldest reported patient at 23 years of age, representing the first report for this phenotype in BABS. Neuroi
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Creators (Authors)
- VanSickle, Elizabeth A
- Michael, Julianne
- Bachmann, André S
- Rajasekaran, Surender
- Prokop, Jeremy W
- Kuzniecky, Ruben
- Hofstede, Floris C
- Rauch, Anita
- Lipson, Mark H
- Bupp, Caleb P
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Citations
VanSickle, E. A., Michael, J., Bachmann, A. S., Rajasekaran, S., Prokop, J. W., Kuzniecky, R., Hofstede, F. C., Steindl, K., Rauch, A., Lipson, M. H., & Bupp, C. P. (2021). Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome. American Journal of Medical Genetics. Part A, 185(11), 3485–3493. https://doi.org/10.1002/ajmg.a.62473
