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Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes.
Am J Med Genet A. 2011 Dec; 155A(12):3104-9.AJ

Abstract

Heterozygous mutations in TP63 cause a wide spectrum of autosomal dominant developmental disorders variably affecting skin, limbs, and face. TP63 encodes p63, a protein expressed in two main isoforms (Tap63 and ΔNp63) with critical roles in both cell differentiation and development. Some analyses suggest a relationship of the mutation site to the observed clinical picture, although this link is inconsistent. This suggests an appreciable phenotypic continuity within the TP63-related disorders. We report a 3-month-old boy ascertained for congenital scalp erosion and mild features of ectodermal dysplasia. His mother showed full-blown characteristics of Rapp-Hodgkin syndrome plus intense abdominal and popliteal freckling. Molecular investigation identified the novel TP63 mutation c.1697delG. We used a luciferase reporter assay to compare the effects on the p63 transactivation (TA) activity of c.1697delG with that of the p.Arg280Cys and p.Gln634X mutations, associated with ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and isolated split hand/foot malformation, respectively. These results demonstrated complex behavior of c.1697delG in the TA of genes involved in epidermal differentiation and development and shed further light in the physiopathology of TP63-related disorders.

Authors+Show Affiliations

IDI-IRCCS Biochemistry Laboratory, c/o Department of Experimental Medicine, University of Tor Vergata, Rome, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22069181

Citation

Serra, Valeria, et al. "Functional Characterization of a Novel TP63 Mutation in a Family With Overlapping Features of Rapp-Hodgkin/AEC/ADULT Syndromes." American Journal of Medical Genetics. Part A, vol. 155A, no. 12, 2011, pp. 3104-9.
Serra V, Castori M, Paradisi M, et al. Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes. Am J Med Genet A. 2011;155A(12):3104-9.
Serra, V., Castori, M., Paradisi, M., Bui, L., Melino, G., & Terrinoni, A. (2011). Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes. American Journal of Medical Genetics. Part A, 155A(12), 3104-9. https://doi.org/10.1002/ajmg.a.34335
Serra V, et al. Functional Characterization of a Novel TP63 Mutation in a Family With Overlapping Features of Rapp-Hodgkin/AEC/ADULT Syndromes. Am J Med Genet A. 2011;155A(12):3104-9. PubMed PMID: 22069181.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes. AU - Serra,Valeria, AU - Castori,Marco, AU - Paradisi,Mauro, AU - Bui,Laura, AU - Melino,Gerry, AU - Terrinoni,Alessandro, Y1 - 2011/11/08/ PY - 2011/07/21/received PY - 2011/09/05/accepted PY - 2011/11/10/entrez PY - 2011/11/10/pubmed PY - 2012/5/1/medline SP - 3104 EP - 9 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 155A IS - 12 N2 - Heterozygous mutations in TP63 cause a wide spectrum of autosomal dominant developmental disorders variably affecting skin, limbs, and face. TP63 encodes p63, a protein expressed in two main isoforms (Tap63 and ΔNp63) with critical roles in both cell differentiation and development. Some analyses suggest a relationship of the mutation site to the observed clinical picture, although this link is inconsistent. This suggests an appreciable phenotypic continuity within the TP63-related disorders. We report a 3-month-old boy ascertained for congenital scalp erosion and mild features of ectodermal dysplasia. His mother showed full-blown characteristics of Rapp-Hodgkin syndrome plus intense abdominal and popliteal freckling. Molecular investigation identified the novel TP63 mutation c.1697delG. We used a luciferase reporter assay to compare the effects on the p63 transactivation (TA) activity of c.1697delG with that of the p.Arg280Cys and p.Gln634X mutations, associated with ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and isolated split hand/foot malformation, respectively. These results demonstrated complex behavior of c.1697delG in the TA of genes involved in epidermal differentiation and development and shed further light in the physiopathology of TP63-related disorders. SN - 1552-4833 UR - https://wwww.unboundmedicine.com/medline/citation/22069181/Functional_characterization_of_a_novel_TP63_mutation_in_a_family_with_overlapping_features_of_Rapp_Hodgkin/AEC/ADULT_syndromes_ L2 - https://doi.org/10.1002/ajmg.a.34335 DB - PRIME DP - Unbound Medicine ER -