EEC (Electrodactilia, ectodermal dysplasia and cleft lip / palate) syndrome ... (Ectrodactyly, ectodermal dysplasia, clefting -EEC-, syndrome) - Gen TP63

EEC syndrome (ectrodactyly, ectodermal dysplasia, cleft lip / palate -electrodactilia, ectodermal dysplasia and cleft lip / palate hendidos-) is a congenital condition characterized by the triad of clinical symptoms which it is named. Other anomalies that are associated with the development of this syndrome commonly present in affected individuals affecting the urogenital tract, the lacrimal tract and hearing.

The EEC syndrome shows common characteristics with Hay-Wells syndrome - see Hay-Wells syndrome ... -gen TP63- and ADULT syndrome - see ADULT (A cro-Dermato-ungual-Lacrimal-Tooth) syndrome ... -gen TP63-. They are generated by mutations in the TP63 gene, located on the long arm of chromosome 3 (3q28). This gene encodes a protein corresponding to a transcription factor protein called p63 tumor (p63). The action of p63 helps regulate many cellular activities, including cell growth and proliferation, cell maintenance, cell differentiation, cell adhesion and apoptosis. This protein plays a critical role in the early development and is especially important for the normal development of ectodermal, such as skin, hair, teeth and nails structures. Also, this protein plays an essential role in the development of limbs, facial features, urinary system, and other organs or tissues. In addition to their roles in development, the p63 protein appears to be required for maintenance of various cells and tissues throughout life.

There is a genotype-phenotype correlation in alterations in the TP63 gene reported, also known as TP73L. Mainly, mutations associated EEC syndrome are located in the region of DNA binding and prevent its binding, whereas abnormalities associated ADULT syndrome affect transactivating domain (TA) gene and associated Hay-Wells syndrome are located domain with sterile alpha-motif (SAM) and disrupt the interaction with other proteins. However, there has been a case of mutation in the DNA binding region that was associated phenotypically rather the ADULT syndrome - see ADULT syndrome - TP63- gene. Over 75% of mutations associated EEC syndrome affecting codons encoding an arginine at 204, 227, 279, 280 and 304 positions.

The high phenotypic similarity and clinical patients with the syndromes mentioned becomes more useful and interesting, if possible, the sequencing of the responsible gene, allowing the specific identification of the mutation responsible for the disease and thereby establish a definitive diagnosis more reliably.

This disease is inherited as an autosomal dominant, which means that a copy of the altered gene in each cell is sufficient for the disease to be expressed.

Tests in IVAMI: in IVAMI perform detection of mutations associated with EEC syndrome, by complete PCR amplification of the exons of TP63 gene, and subsequent sequencing. In case of pre suspicion against the EEC syndrome and ADULT syndrome Hay-Wells syndrome is recommended to start the study by exon 8, where most of EEC syndrome associated with genetic alterations are located.

Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample) if postnatal diagnosis. For prenatal diagnosis, amniotic fluid or chorionic villi.