TY - JOUR
T1 - Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome
AU - Wessagowit, V
AU - Mellerio, J E
AU - Pembroke, A C
AU - McGrath, J A
PY - 2000
Y1 - 2000
N2 - Mutations in the p63 gene have recently been delineated as the molecular basis for some cases of the ectrodactyly, ectodermal dysplasia and cleft lip/palate (EEC) syndrome, an autosomal dominant disorder (MIM 129900). In this report, we describe a 35-year-old woman with EEC syndrome and document a heterozygous germline missense mutation, R304W, in exon 8 of the p63 gene. As with most other p63 mutations in EEC syndrome, this mutation has arisen de novo and is located within the core DNA-binding domain of p63. Identification of this mutation has implications for genetic counselling and the feasibility of future DNA-based prenatal diagnosis in this individual.
AB - Mutations in the p63 gene have recently been delineated as the molecular basis for some cases of the ectrodactyly, ectodermal dysplasia and cleft lip/palate (EEC) syndrome, an autosomal dominant disorder (MIM 129900). In this report, we describe a 35-year-old woman with EEC syndrome and document a heterozygous germline missense mutation, R304W, in exon 8 of the p63 gene. As with most other p63 mutations in EEC syndrome, this mutation has arisen de novo and is located within the core DNA-binding domain of p63. Identification of this mutation has implications for genetic counselling and the feasibility of future DNA-based prenatal diagnosis in this individual.
UR - http://www.scopus.com/inward/record.url?scp=0033769921&partnerID=8YFLogxK
U2 - 10.1046/j.1365-2230.2000.00683.x
DO - 10.1046/j.1365-2230.2000.00683.x
M3 - Article
SN - 1365-2230
VL - 25
SP - 441
EP - 443
JO - Clinical and Experimental Dermatology
JF - Clinical and Experimental Dermatology
IS - 5
ER -