EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis

The British Journal of Dermatology
A P SouthJ A McGrath

Abstract

Germline mis-sense mutations in the DNA-binding domain of the p63 gene have recently been established as the molecular basis for the autosomal dominant EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome. To examine genomic DNA from a 36-year-old woman, her 58-year-old father and her 11-year-old son, all with the EEC syndrome, to determine the inherent p63 mutation and, after genetic counselling, to use knowledge of the mutation to undertake a first-trimester DNA-based prenatal diagnosis in a subsequent pregnancy. Fetal DNA was extracted from chorionic villi and used to amplify exon 7 of p63 containing the potential mutation. Direct sequencing and restriction endonuclease digestion (loss of AciI site on mutant allele) were used for DNA-based prenatal diagnosis. We identified a heterozygous arginine to histidine p63 mutation, R279H, in all three affected individuals. Prenatal diagnosis demonstrated a homozygous wild-type sequence predicting an unaffected child: a healthy boy was subsequently born at full-term. These data expand the p63 gene mutation database and provide the first example of a DNA-based prenatal test in this ectodermal dysplasia syndrome.

References

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Jun 7, 2000·American Journal of Human Genetics·P IanakievP Tsipouras
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Citations

Jul 24, 2004·The British Journal of Dermatology·Y TakeuchiO Ishikawa
Jan 13, 2006·The British Journal of Dermatology·H FassihiJ A McGrath
Oct 4, 2005·Journal of the American Academy of Dermatology·Sung-Wook ParkJerry Shapiro
May 13, 2006·American Journal of Medical Genetics. Part a·Tuula RinneHan G Brunner
Feb 8, 2006·Oncogene·R KommaganiM P Kadakia
Aug 27, 2003·European Journal of Human Genetics : EJHG·Gaëlle BougeardThierry Frébourg
Dec 22, 2007·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·Lisa M Allen, Mary Jo Maestri
Jan 1, 2015·Case Reports in Plastic Surgery & Hand Surgery·Marcello AugelloKatja Schwenzer-Zimmerer

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