Rapp-Hodgkin syndrome and the tail of p63

I. Chan, J. A. McGrath, S. Kivirikko

研究成果: Article同行評審

22 引文 斯高帕斯(Scopus)

摘要

We report the clinical and molecular abnormalities in a 19-year-old woman with Rapp-Hodgkin ectodermal dysplasia syndrome. The physical features include mid-facial hypoplasia, uncombable hair, cleft palate and bifid uvula, lacrimal duct obstruction and dry skin. Sequencing of the p63 gene reveals a new heterozygous frameshift mutation, 1787delG, in exon 14. The frameshift results in changes to the tail of p63 with the addition of 68 missense amino acids downstream and a delayed termination codon that extends the protein length by 21 amino acids. These changes are predicted to disrupt the normal repressive function of the transactivation inhibitory domain leading to gain-of-function for at least two isoforms of the p63 transcription factor. The expanding p63 mutation database demonstrates that there is overlap between Rapp-Hodgkin syndrome and several other ectodermal dysplasia syndromes, notably Hay-Wells syndrome, and that characterization of the functional consequences of these p63 gene mutations at a molecular and cellular level is likely to provide further insight into the clinical spectrum of these developmental malformation syndromes.

原文English
頁(從 - 到)183-186
頁數4
期刊Clinical and Experimental Dermatology
30
發行號2
DOIs
出版狀態Published - 2005 3月

All Science Journal Classification (ASJC) codes

  • 皮膚科

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