Abstract |
Several ectodermal dysplasia syndromes have been shown to result from mutations in the gene that encodes the transcription factor p63. We describe an 11-year-old boy, with clinically normal parents, who had a developmental disorder that resembled EEC ( ectrodactyly ectodermal dysplasia-clefting) syndrome (OMIM 604292). He had ectrodactyly and missing middle fingers bilaterally, onychodysplasia, hypodontia with missing teeth, hypohidrosis and lacrimal duct obstruction. DNA sequencing disclosed a heterozygous G-->A substitution at nucleotide 893, that converts an arginine residue (CGA) to glutamine (CAA), the mutation being designated R298Q. This mutation occurs within the DNA-binding domain of p63, and is close to many of the published EEC syndrome mutations. However, R298Q has been described once previously in a large German pedigree, not with EEC syndrome, but another ectodermal dysplasia disorder, ADULT ( acro-dermato-ungual-lacrimal-tooth) syndrome (OMIM 103285). Further clinical assessment in our patient revealed that, apart from not having cleft lip and/or palate, he had an exfoliative dermatitis of his hands and feet, and some freckling on his face and shoulders. Collectively, these features support a diagnosis of ADULT syndrome. This study has identified a specific genotype-phenotype correlation in a rare ectodermal dysplasia syndrome and the findings are useful in improving genetic counselling in this family.
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Authors | I Chan, J I Harper, J E Mellerio, J A McGrath |
Journal | Clinical and experimental dermatology
(Clin Exp Dermatol)
Vol. 29
Issue 6
Pg. 669-72
(Nov 2004)
ISSN: 0307-6938 [Print] England |
PMID | 15550149
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- DNA-Binding Proteins
- Phosphoproteins
- TP63 protein, human
- Trans-Activators
- Transcription Factors
- Tumor Suppressor Proteins
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Topics |
- Base Sequence
- Child
- DNA-Binding Proteins
- Ectodermal Dysplasia
(genetics)
- Genes, Tumor Suppressor
- Hand Deformities
(genetics)
- Humans
- Male
- Molecular Sequence Data
- Mutation, Missense
- Phosphoproteins
(genetics)
- Syndrome
- Tooth Abnormalities
(genetics)
- Trans-Activators
(genetics)
- Transcription Factors
- Tumor Suppressor Proteins
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