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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.

AbstractBACKGROUND:
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.
AuthorsGiovanni Battista Ferrero, Giuseppina Baldassarre, Emanuele Panza, Mariella Valenzise, Tommaso Pippucci, Alessandro Mussa, Ernesto Pepe, Marco Seri, Margherita Cirillo Silengo
JournalEuropean journal of pediatrics (Eur J Pediatr) Vol. 169 Issue 2 Pg. 223-8 (Feb 2010) ISSN: 1432-1076 [Electronic] Germany
PMID19536562 (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

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