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

Abstract

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.

• Authors: M Okur, R Eroz, S Mundlos, D A Senses, E Ulgen, Z B Ismailler, D Ozcelik
• Journal: Genetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 23 Issue 4 Pg. 483-5 ( 2012) ISSN: 1015-8146 [Print] Switzerland
• PMID: 23431748 (Publication Type: Case Reports, Journal Article)

Chemical References

• CKAP4 protein, human
• Membrane Proteins

Topics

• Abnormalities, Multiple (diagnosis, genetics)
• Cleft Lip (complications, diagnosis, genetics)
• Cleft Palate (complications, diagnosis, genetics)
• DNA Mutational Analysis (methods)
• Ectodermal Dysplasia (complications, diagnosis, genetics)
• Exons
• Female
• Genetic Predisposition to Disease (genetics)
• Heart Septal Defects, Atrial (complications, diagnosis, genetics)
• Humans
• Infant, Newborn
• Membrane Proteins (genetics)
• Mutation, Missense (genetics)