Boricua Founder Variant in
Publication/Presentation Date
2-1-2021
Abstract
OBJECTIVE: To describe a founder mutation effect and the clinical phenotype of homozygous
BACKGROUND: EIEE-37 is caused by biallelic loss of function variants in the
METHODS: A retrospective, multicenter chart review of patients sharing the same homozygous
RESULTS: Fifteen patients from 12 different families of Puerto Rican ancestry were homozygous for the
CONCLUSIONS: We describe the largest cohort to date of patients with epileptic encephalopathy. We estimate that 0.76% of unaffected individuals of Puerto Rican ancestry carry this pathogenic variant due to a founder effect. Children homozygous for the
Volume
36
Issue
2
First Page
93
Last Page
98
ISSN
1708-8283
Published In/Presented At
Abdelmoumen, I., Jimenez, S., Valencia, I., Melvin, J., Legido, A., Diaz-Diaz, M. M., Griffith, C., Massingham, L. J., Yelton, M., Rodríguez-Hernández, J., Schnur, R. E., Walsh, L. E., Cristancho, A. G., Bergqvist, C. A., McWalter, K., Mathieson, I., Belbin, G. M., Kenny, E. E., Ortiz-Gonzalez, X. R., & Schneider, M. C. (2021). Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements. Journal of child neurology, 36(2), 93–98. https://doi.org/10.1177/0883073820953001
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
32928027
Department(s)
Department of Pediatrics
Document Type
Article