Abstract
TP63 gene mutations have recently been shown to be disease causing in EEC and SHFM. Two other overlapping syndromes with ectrodactyly as a major feature, have been mapped to chromosome 3q27 close by the TP63 locus, namely the LMS and ADULT syndromes. Here, we report on a missense TP63 gene mutation in an isolated ADULT syndrome case. This finding widens the spectrum of abnormalities to be ascribed to TP63 gene in human and emphasise on the variable roles of the different Tp63 isotypes.
Similar content being viewed by others
Article PDF
References
Propping P, Zerres K . ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia Am J Med Genet 1993 45: 642–648
Propping P, Friedl W, Wienker TF, Uhlhaas S, Zerres K . ADULT syndrome allelic to limb mammary syndrome (LMS)? Am J Med Genet 2000 90: 179–182
Celli J, Duijf P, Hamel BC et al. Heterozygous germline mutations in the P53 homolog P63 are the cause of EEC syndrome Cell 1999 99: 143–153
van Bokhoven H, Jung M, Smits AP et al. Limb Mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27 Am J Hum Genet 1999 64: 538–546
Yang A, Schweitzer R, Sun D et al. p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development Nature 1999 398: 714–718
Ianakiev P, Kilpatrick MW, Toudjarska I, Basel D, Beighton P, Tsipouras P . Split-hand/split foot malformation is caused by mutations in the p63 gene on 3q27 Am J Hum Genet 2000 67: 59–66
Wessagowit V, Mellerio JE, Pembroke AC, McGrath JA . Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome Clin Exp Dermatol 2000 25: 441–443
Hagiwara K, McMenamin MG, Miura K, Harris CC . Mutational analysis of the p63/p73L/p51/p40/CUSP/KET gene in human cancer cell lines using intronic primers Cancer Res 1999 59: 4165–4169
Yang A, Kaghad M, Wang Y et al. p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities Mol Cell 1998 2: 305–316
Van Bokhoven H, Mc Grath JA, Fuijf P et al. P63 mutations in the EEC, Hay-Wells, ADULT syndromes and in split hand/foot malformation reveals a genotype-phenotype correlation Am J Hum Genet 2000 67: 149
Francannet C, Vanlieferinghen P, Dechelotte P, Urbain MF, Campagne D, Malpuech G . LADD syndrome in five members of a three-generation family and prenatal diagnosis Genetic Couns 1994 5: 85–91
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Amiel, J., Bougeard, G., Francannet, C. et al. TP63 gene mutation in ADULT syndrome. Eur J Hum Genet 9, 642–645 (2001). https://doi.org/10.1038/sj.ejhg.5200676
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/sj.ejhg.5200676
Keywords
This article is cited by
-
Heterozygous TP63 pathogenic variants in isolated primary ovarian insufficiency
Journal of Assisted Reproduction and Genetics (2023)
-
Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation
BMC Medical Genomics (2022)
-
A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome-like ectodermal dysplasia
Human Genome Variation (2022)
-
Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate
Human Genetics (2017)
-
Solution structure and binding specificity of the p63 DNA binding domain
Scientific Reports (2016)