Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation. Issue 9 (28th June 2016)

• Record Type: Journal Article
• Authors: Enriquez, Annabelle; Krivanek, Michael; Flöttmann, Ricarda; Peters, Hartmut; Wilson, Meredith
• Is Part Of: American journal of medical genetics. Volume 170:Issue 9(2016)
• Page Start: 2372
• Page End: 2376
• Publication Date: 2016-06-28
• Subjects: TP63 -- congenital limb deformities -- split hand/foot malformation -- cleft lip -- cleft palate -- ectodermal dysplasia -- urogenital abnormalities -- germline mosaicism; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37816
• Languages: English
• ISSNs: 1552-4825

Abstract

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.