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Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation
Author(s) -
Enriquez Annabelle,
Krivanek Michael,
Flöttmann Ricarda,
Peters Hartmut,
Wilson Meredith
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37816
Subject(s) - ectrodactyly , germline mosaicism , genitourinary system , medicine , germline , ectodermal dysplasia , dysplasia , syndactyly , hypertelorism , germline mutation , prenatal diagnosis , fetus , mutation , anatomy , pathology , dermatology , pregnancy , genetics , biology , gene
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.