A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting

Summary Ectrodactyly–ectodermal dysplasia–cleft lip/palate (EEC) syndrome is an autosomal dominant form of ectodermal dysplasia associated with limb anomalies and orofacial clefting. The TP63 gene has been shown to be the cause of the disease, and some tentative genotype–phenotype correlations have...

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Bibliographic Details
Published in:Clinical and experimental dermatology 2009-12, Vol.34 (8), p.e726-e728
Main Authors: Sorasio, L., Biamino, E., Garelli, E., Ferrero, G. B., Silengo, M. C.
Format: Article
Language:English
Subjects:
Adolescent
Child
Cleft Lip - genetics
Cleft Palate - genetics
Ectodermal Dysplasia - genetics
Female
Foot Deformities, Congenital - genetics
Genotype
Hand Deformities, Congenital - genetics
Humans
Male
Mutation - genetics
Phenotype
Siblings
Trans-Activators - genetics
Transcription Factors
Tumor Suppressor Proteins - genetics
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Summary:Summary Ectrodactyly–ectodermal dysplasia–cleft lip/palate (EEC) syndrome is an autosomal dominant form of ectodermal dysplasia associated with limb anomalies and orofacial clefting. The TP63 gene has been shown to be the cause of the disease, and some tentative genotype–phenotype correlations have been reported. We describe a familial case of EEC syndrome, diagnosed in two siblings affected by severe ectrodactyly and mild ectodermal dysplasia, without clefting. Moreover, one of the siblings had a history of delayed developmental milestones in the first years of life. Family history revealed mild hand malformations in the father and grandfather, who were not available for clinical evaluation. The TP63 gene molecular study showed in both siblings a heterozygous H208D mutation, which has not been previously reported to our knowledge, suggesting that this molecular lesion is associated with EEC syndrome without orofacial clefting.
ISSN:0307-6938
1365-2230
DOI:10.1111/j.1365-2230.2009.03451.x