title: Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation.
abstract: We describe two sibling fetuses with urogenital abnormalities detected by prenatal ultrasound, in which post-delivery examination showed split hand and foot malformation, and bilateral cleft lip and palate. These findings are consistent with ectrodactyly-ectodermal dysplasia-cleft lip with or without cleft palate syndrome (EEC). Both fetuses were found to have the same missense mutation in TP63 (c.1051G > A; p.D351N). Parental clinical examinations and lymphocyte DNA analyses were normal. This report illustrates the potential severity of urogenital defects in TP63-related disorders, which may be detectable with fetal ultrasonography. It highlights the need to counsel for the possibility of germline mosaicism in TP63-associated disorders. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Department of Clinical Genetics, Children's Hospital at Westmead, Westmead, NSW, Australia.|Discipline of Genetic Medicine, University of Sydney, NSW, Australia.
authors.forename: Annabelle
authors.initials: A
authors.lastname: Enriquez
authors.affiliation: Department of Histopathology, Children's Hospital at Westmead, Westmead, NSW, Australia.
authors.forename: Michael
authors.initials: M
authors.lastname: Krivanek
authors.affiliation: Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
authors.forename: Ricarda
authors.initials: R
authors.lastname: Flöttmann
authors.affiliation: Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
authors.forename: Hartmut
authors.initials: H
authors.lastname: Peters
authors.affiliation: Department of Clinical Genetics, Children's Hospital at Westmead, Westmead, NSW, Australia.|Discipline of Genetic Medicine, University of Sydney, NSW, Australia.
authors.forename: Meredith
authors.initials: M
authors.lastname: Wilson
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D002675:Child, Preschool; D002971:Cleft Lip / Q000175:diagnosis / Q000235:genetics*; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D056726:Genetic Association Studies; D018095:Germ-Line Mutation; D006801:Humans; D017880:Limb Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D017422:Sequence Analysis, DNA; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D016216:Ultrasonography, Prenatal; D014564:Urogenital Abnormalities / Q000175:diagnosis / Q000235:genetics*
chemical_list: C115051:TP63 protein, human; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins
keywords: TP63; cleft lip; cleft palate; congenital limb deformities; ectodermal dysplasia; germline mosaicism; split hand/foot malformation; urogenital abnormalities