BRPF1 Syndrome

BRPF-1 syndrome is a rare syndrome. It is an autosomal dominant hereditary disorder.
Autosomal dominant genetic inheritance means that a person may develop a disease if one of the parents has a gene defect. 

The syndrome manifests as intellectual disability, abnormal facial features (dysmorphic features), drooping eyelids (ptosis), and/or a narrowed eye fissure (blepharophimosis), resulting in only a small portion of the eye being visible. Some patients with this syndrome have normal intellectual development.

 

In addition, these people experience symptoms of muscle weakness and decreased muscle tone (hypotonia), which makes movement more difficult. Hypotonia is not a condition in itself, but a consequence of something else. Certain causes of severe hypotonia can also lead to heart problems.

The disability places a significant burden on the affected individuals and their families.

 

The BPRF1 gene is located on chromosome 3. The location of this error on the 3rd chromosome is called the BRPF1 gene.
Another name for BRPF1 syndrome is IDDDFP Syndrome.
It is an abbreviation of "Intellectual Developmental Disorder with Dysmorphic Facies & PTOSIS." "Dysmorphic facies" indicates that children with prominent facial features, including ptosis, or drooping eyelids, are affected.
The syndrome was described in 2017 by Mattiolli (et al.) and Yan (et al.) in a series of patients with clinical features.

 

Below is a photo of a child with this condition. The child is Marloes, born in 1980, who wrote her story for our Dutch website. The condition wasn't recognized and described until 2017.
It was therefore a long struggle for her to understand what was wrong with her. See here. 

Here you can read her story in English.

 

More information:

https://www.cell.com/ajhg/fulltext/S0002-9297(16)30488-8

https://pmc.ncbi.nlm.nih.gov/articles/PMC6565580/

 

 

 

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Resources

Mattioli, F., Schaefer, E., Magee, A., Mark, P., Mancini, G. M., Dieterich, K., Allmen, G. V., Alders, M., Coutton, C., Slegtenhorst, M. van, Vieville, G., Engelen,M., Cobben, J. M., Juusola, J., Pujol, A., Mandel, J.-L., & Piton, A. (2017). Mutations in histone Acetylase modifier BRPF1 cause an autosomal-dominantform of intellectual disability with associated ptosis. The American Journal of Human Genetics, 100(1), 105-116.
https://doi.org/10.1016/j.ajhg.2016.11.010
Yan, K., Rousseau, J., Littlejohn, R. O., Kiss, C., Lehman, A., Rosenfeld, J. A., Stumpel, C. T. R., Stegmann, A. P. A., Robak, L., Scaglia, F., Nguyen, T. T. M.,Fu, H., Ajeawung, N. F., Camurri, M. V., Li, L., Gardham, A., Panis, B., Almannai, M., Sacoto, M. J. G., … Yang, X.-J. (2017). Mutations in the chromatinregulator gene BRPF1 cause Syndromic intellectual disability and deficient histone acetylation. The American Journal of Human Genetics, 100(1), 91-104.
https://doi.org/10.1016/j.ajhg.2016.11.011