Abstract | 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. CONCLUSION: This report emphasizes the role of the clinician in recognizing the clinical variability and the genetic heterogeneity of CL/P.
|
Authors | Giovanni Battista Ferrero, Giuseppina Baldassarre, Emanuele Panza, Mariella Valenzise, Tommaso Pippucci, Alessandro Mussa, Ernesto Pepe, Marco Seri, Margherita Cirillo Silengo |
Journal | European journal of pediatrics
(Eur J Pediatr)
Vol. 169
Issue 2
Pg. 223-8
(Feb 2010)
ISSN: 1432-1076 [Electronic] Germany |
PMID | 19536562
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
|
Chemical References |
- IRF6 protein, human
- Interferon Regulatory Factors
- DNA
|
Topics |
- Abnormalities, Multiple
- Chromosomes, Human, Pair 1
- Cleft Lip
(diagnosis, genetics)
- Cleft Palate
(diagnosis, genetics)
- DNA
(genetics)
- DNA Mutational Analysis
- Female
- Follow-Up Studies
- Genetic Predisposition to Disease
- Humans
- Infant, Newborn
- Interferon Regulatory Factors
(genetics, metabolism)
- Mutation
- Pedigree
|