TP63 gene mutation in ADULT syndrome

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...

Full description

Saved in:
Bibliographic Details
Published inEuropean journal of human genetics : EJHG Vol. 9; no. 8; pp. 642 - 645
Main Authors Amiel, J, Bougeard, G, Francannet, C, Raclin, V, Munnich, A, Lyonnet, S, Frebourg, T
Format Journal Article
LanguageEnglish
Published England Nature Publishing Group 01.08.2001
Subjects
Abnormalities, Multiple
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - genetics
Alleles
Child
Female
Genes, Dominant
Genes, Dominant - genetics
Genetic Linkage
Genetics
Genotype
Human genetics
Humans
Life Sciences
Limb Deformities, Congenital
Limb Deformities, Congenital - diagnosis
Limb Deformities, Congenital - genetics
Mutation
Mutation - genetics
Nipples
Nipples - abnormalities
Syndrome
Online AccessGet full text

Cover

More Information
Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ObjectType-Article-1
ObjectType-Feature-2
ISSN:1018-4813
1476-5438
DOI:10.1038/sj.ejhg.5200676