Mutations in P63 and IRF-6 Present with Overlapping Craniofacial Defects: A study from Lebanon

Download Citation in txt Download Citation in bib Download Citation in ris

Author Info

Edgar Jabbour Lamiaa Hamie Mazen Kurban Pamela Kassabian

Corresponding Author

Mazen Kurban
Department of Dermatology, American University of Beirut Medical Center, Beirut, Lebanon

A B S T R A C T

Interferon Regulatory Factor 6 (IRF-6) and p63 are two vital transcription factors implicated in normal craniofacial development. In this report, we present a family with Van Der Woude Syndrome (VWS) with a mutation in exon 9 of IRF-6 gene and a phenotypically overlapping case of Rapp-Hodgkin Syndrome (RHS) resulting from a mutation in the p63 gene. Members from both families presented with congenital lip pits and cleft lip/palate. The RHS case had additional ectodermal features that underscore the upstream nature of p63 in the complex p63-IRF-6 interactive pathway.

Article Info

Article Type

Case Report

Publication history

Received: Fri 15, Nov 2019
Accepted: Thu 19, Dec 2019
Published: Tue 31, Dec 2019

Copyright

© 2023 Mazen Kurban. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Hosting by Science Repository.
DOI: 10.31487/j.ORD.2019.01.04