title: TP63 gene mutation in ADULT syndrome.
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.
authors.affiliation: Département de Génétique, et Unité INSERM U-393, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75743 Paris Cedex 15, France. amiel@necker.fr
authors.forename: J
authors.initials: J
authors.lastname: Amiel
authors.forename: G
authors.initials: G
authors.lastname: Bougeard
authors.forename: C
authors.initials: C
authors.lastname: Francannet
authors.forename: V
authors.initials: V
authors.lastname: Raclin
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: S
authors.initials: S
authors.lastname: Lyonnet
authors.forename: T
authors.initials: T
authors.lastname: Frebourg
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000483:Alleles; D002648:Child; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D017880:Limb Deformities, Congenital / Q000175:diagnosis / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D009558:Nipples / Q000002:abnormalities; D013577:Syndrome