TY - JOUR
AR - ORD-2019-1-104
TI - Mutations in P63 and IRF-6 Present with Overlapping Craniofacial Defects: A study from Lebanon
AU -  Edgar, Jabbour
AU - Lamiaa, Hamie
AU - Mazen, Kurban
AU - Pamela , Kassabian
JO - Oral Rehabilitation and Dentistry
PY - 2019
DA - Tue 31, Dec 2019
SN - 2733-2543
DO - http://dx.doi.org/10.31487/j.ORD.2019.01.04
UR - https://www.sciencerepository.org/mutations-in-p63-and-irf-6present_ORD-2019-1-104 
KW - Lip pits, p63-related disorders, ectodermal dysplasia, IRF-6
AB - 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.