Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3 study with ChIP-Seq, ChIP-seq Read Counts (NGS) + 2 more data on dbGaP (14 participants)

phs001737 — Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate (EEC) Syndrome Study

<p>Transcription factor p63 is a key regulator of epidermal keratinocyte proliferation and differentiation. Heterozygous mutations of TP63 encoding p63 cause a spectrum of developmental disorders. EEC syndrome is caused by point mutations in the p63 DNA-binding domain, and manifests ectodermal dysplasia with defects in the epidermis and epidermal related appendages, limb malformation and cleft lip/palate. Five hotspot mutations affecting amino acids, R204, R227, R279, R280 and R304, have been found in approximately 90% of the EEC population. Although the role of p63 in normal epidermal development and differentiation has been demonstrated, the molecular mechanism by which p63 mutations cause the epidermal phenotype in diseases is not yet understood. In the two related studies, we characterize p63 mutant keratinocytes (R204W, R279H and R304W) and p63 mutant iPSCs (R204W and R304W) and the molecular mechanisms underlying their differentiation defects.</p>