title: A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.
abstract: Popliteal pterygium syndrome (PPS) and Van der Woude syndrome (VWS) are caused by mutations in the gene interferon regulatory factor 6 (IRF6). Skeletal, genital malformations and involvement of the skin occur in PPS and orofacial clefting and lip pits occur in both. We report on a patient with unilateral cleft lip and palate, ankyloblepharon, paramedian lip pits, unilateral renal aplasia, and a coronal hypospadias. By sequencing IRF6, we detected a novel missense mutation (Arg339Ile). The other family members were unaffected and had no IRF6 mutations, including the patient's brother who was also born with hypospadias. The patient and his brother were both conceived by in vitro fertilization (IVF). It is discussed whether the renal malformation in the patient is related to the IVF procedure or to the IRF6 mutation.
authors.affiliation: Department of Plastic and Reconstructive Surgery and Burns Unit, University Hospital of Copenhagen, Rigshospitalet, Denmark. filipe@dadlnet.dk
authors.forename: Filipe
authors.initials: F
authors.lastname: de Medeiros
authors.forename: Lars
authors.initials: L
authors.lastname: Hansen
authors.forename: Evete
authors.initials: E
authors.lastname: Mawlad
authors.forename: Hans
authors.initials: H
authors.lastname: Eiberg
authors.forename: Camilla
authors.initials: C
authors.lastname: Asklund
authors.forename: Niels
authors.initials: N
authors.lastname: Tommerup
authors.forename: Linda P
authors.initials: LP
authors.lastname: Jakobsen
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D005091:Exons; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities* / Q000254:growth & development; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D013577:Syndrome
chemical_list: C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors