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A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting.
Clin Exp Dermatol. 2009 Dec; 34(8):e726-8.CE

Abstract

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.

Authors+Show Affiliations

Department of Pediatrics, University of Torino, Torino, Italy. lorena.sorasio@yahoo.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

19663851

Citation

Sorasio, L, et al. "A Novel H208D TP63 Mutation in a Familial Case of Ectrodactyly-ectodermal Dysplasia-cleft Lip/palate Syndrome Without Clefting." Clinical and Experimental Dermatology, vol. 34, no. 8, 2009, pp. e726-8.
Sorasio L, Biamino E, Garelli E, et al. A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting. Clin Exp Dermatol. 2009;34(8):e726-8.
Sorasio, L., Biamino, E., Garelli, E., Ferrero, G. B., & Silengo, M. C. (2009). A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting. Clinical and Experimental Dermatology, 34(8), e726-8. https://doi.org/10.1111/j.1365-2230.2009.03451.x
Sorasio L, et al. A Novel H208D TP63 Mutation in a Familial Case of Ectrodactyly-ectodermal Dysplasia-cleft Lip/palate Syndrome Without Clefting. Clin Exp Dermatol. 2009;34(8):e726-8. PubMed PMID: 19663851.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting. AU - Sorasio,L, AU - Biamino,E, AU - Garelli,E, AU - Ferrero,G B, AU - Silengo,M C, Y1 - 2009/07/29/ PY - 2009/8/12/entrez PY - 2009/8/12/pubmed PY - 2010/8/19/medline SP - e726 EP - 8 JF - Clinical and experimental dermatology JO - Clin Exp Dermatol VL - 34 IS - 8 N2 - 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. SN - 1365-2230 UR - https://www.unboundmedicine.com/medline/citation/19663851/A_novel_H208D_TP63_mutation_in_a_familial_case_of_ectrodactyly_ectodermal_dysplasia_cleft_lip/palate_syndrome_without_clefting_ L2 - https://doi.org/10.1111/j.1365-2230.2009.03451.x DB - PRIME DP - Unbound Medicine ER -