EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case report

EEC syndrome is characterized by ectodermal dysplasia, ectrodactyly and cleft lip and/or palate and associated anomalies such as lacrimal duct obstruction, urinary tract anomaly, and hearing loss. This syndrome is a rare autosomal dominant disorder caused by heterozygous mutations in the p63 gene. H...

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Bibliographic Details
Published in:	Genetic counseling Vol. 23; no. 4; p. 483
Main Authors:	Okur, M, Eroz, R, Mundlos, S, Senses, D A, Ulgen, E, Ismailler, Z B, Ozcelik, D
Format:	Journal Article
Language:	English
Published:	Switzerland 01-01-2012
Subjects:	Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Cleft Lip - complications Cleft Lip - diagnosis Cleft Lip - genetics Cleft Palate - complications Cleft Palate - diagnosis Cleft Palate - genetics DNA Mutational Analysis - methods Ectodermal Dysplasia - complications Ectodermal Dysplasia - diagnosis Ectodermal Dysplasia - genetics Exons Female Genetic Predisposition to Disease - genetics Heart Septal Defects, Atrial - complications Heart Septal Defects, Atrial - diagnosis Heart Septal Defects, Atrial - genetics Humans Infant, Newborn Membrane Proteins - genetics Mutation, Missense - genetics
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Summary:	EEC syndrome is characterized by ectodermal dysplasia, ectrodactyly and cleft lip and/or palate and associated anomalies such as lacrimal duct obstruction, urinary tract anomaly, and hearing loss. This syndrome is a rare autosomal dominant disorder caused by heterozygous mutations in the p63 gene. Herein, a newborn infant with EEC syndrome with secundum atrial septal defect who had a de novo mutation (c.953G > A) on exon 7 of p63 gene is presented.
ISSN:	1015-8146