A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.
BACKGROUND
Orofacial clefts are common congenital malformations usually characterized by a multifactorial etiology. These heterogeneous defects comprise cleft lip (CL), CL with cleft palate (CL/P), and cleft palate, sometimes observed in recognizable syndromes, with mendelian, chromosomal, or environmental pathogenesis. The Van der Woude syndrome is a mendelian CL/P, accounting for about 2% of all cases and caused by mutations in the interferon regulatory factor 6 (IRF6) gene, located on 1q32.2 chromosome.


OBJECTIVE
Here, we describe a familial case with a novel IRF6 mutation segregating in the maternal line, displaying a highly intrafamilial variable clinical expression.


CONCLUSIONS
This report emphasizes the role of the clinician in recognizing the clinical variability and the genetic heterogeneity of CL/P.
Ferrero
Giovanni Battista
GB
Department of Pediatrics, University of Torino, Piazza Polonia, 94-10126 Torino, Italy. giovannibattista.ferrero@unito.it
Baldassarre
Giuseppina
G
Panza
Emanuele
E
Valenzise
Mariella
M
Pippucci
Tommaso
T
Mussa
Alessandro
A
Pepe
Ernesto
E
Seri
Marco
M
Silengo
Margherita Cirillo
MC
D000015:Abnormalities, Multiple; D002878:Chromosomes, Human, Pair 1; D002971:Cleft Lip / Q000175:diagnosis / Q000235:genetics*; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007231:Infant, Newborn; D050835:Interferon Regulatory Factors / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D010375:Pedigree
C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors; D004247:DNA