Details

Autor(en) / Beteiligte

• South, A.P.
• Ashton, G.H.S.
• Willoughby, C.
• Ellis, I.H.
• Bleck, O.
• Hamada, T.
• Mannion, G.
• Wessagowit, V.
• Hashimoto, T.
• Eady, R.A.J.
• Mcgrath, J.A.

Titel

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

Ist Teil von

• British journal of dermatology (1951), 2002-02, Vol.146 (2), p.216-220

Ort / Verlag

Oxford, UK: Blackwell Science, Ltd

Erscheinungsjahr

2002

Link zum Volltext

Quelle

Wiley Online Library Journals Frontfile Complete

Beschreibungen/Notizen

• Summary Background 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. Objectives 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. Methods 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. Results 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. Conclusions These data expand the p63 gene mutation database and provide the first example of a DNA‐based prenatal test in this ectodermal dysplasia syndrome.