For COVID-19 vaccine updates, please review our information guide. For patient eligibility and scheduling availability, please visit VaccineTogetherNY.org.

Rapidly Progressive Multisutural Craniosynostosis in a Patient With Jackson-Weiss Syndrome and a De Novo Pathogenic Variant.

TitleRapidly Progressive Multisutural Craniosynostosis in a Patient With Jackson-Weiss Syndrome and a De Novo Pathogenic Variant.
Publication TypeJournal Article
Year of Publication2019
AuthorsCelie K-B, Yuan M, Cunniff C, Bogue J, Hoffman C, Imahiyerobo T
JournalCleft Palate Craniofac J
Volume56
Issue10
Pagination1386-1392
Date Published2019 11
ISSN1545-1569
KeywordsCraniosynostoses, Foot Deformities, Congenital, Humans, Mutation, Phenotype, Receptor, Fibroblast Growth Factor, Type 2
Abstract

Little is currently known about the mechanisms by which pathogenic variants of produce changes in the FGFR protein and influence the clinical presentation of affected individuals. We report on a patient with a de novo pathogenic variant of and a phenotype consistent with Jackson-Weiss syndrome who presented with delayed, rapidly progressive multisutural craniosynostosis and associated medical complications. Using 3-dimensional modeling of the FGFR protein, we provide evidence that this variant resulted in abnormal dimerization and constitutive activation of FGFR, leading to the Jackson-Weiss phenotype. Knowledge regarding the correlation between genotype and phenotype of persons with -related craniosynostosis has the potential to allow for anticipation of medical complications, institution of early treatment, and improved clinical outcomes.

DOI10.1177/1055665619851642
Alternate JournalCleft Palate Craniofac J
PubMed ID31122048