Data/hora: 05/06/2024 18:21:51

Provedor de dados: 	74	
País: 	Brazil	
Título: 	A novel c.1037C &amp;gt; G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome	
Autores: 	Alves,Leandro Ucela; Pardono,Eliete; Otto,Paulo A.; Mingroni Netto,Regina Célia.	
Data: 	2015-03-01	
Ano: 	2015	
Palavras-chave: 	EEC syndrome; TP63-mutations; P63-associated disorders; SHFM.	
Resumo: 	Ectrodactyly – ectodermal dysplasia and cleft lip/palate (EEC) syndrome (OMIM 604292) is a rare disorder determined by mutations in the TP63 gene. Most cases of EEC syndrome are associated to mutations in the DNA binding domain (DBD) region of the p63 protein. Here we report on a three-generation Brazilian family with three individuals (mother, son and grandfather) affected by EEC syndrome, determined by a novel mutation c.1037C &gt; G (p.Ala346Gly). The disorder in this family exhibits a broad spectrum of phenotypes: two individuals were personally examined, one presenting the complete constellation of EEC syndrome manifestations and the other presenting an intermediate phenotype; the third affected, a deceased individual not examined personally and referred to by his daughter, exhibited only the split-hand/foot malformation (SHFM). Our findings contribute to elucidate the complex phenotype-genotype correlations in EEC syndrome and other related TP63-mutation syndromes. The possibility of the mutation c.1037C &gt; G being related both to acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome and SHFM is also raised by the findings here reported.	
Tipo: 	Info:eu-repo/semantics/report	
Idioma: 	Inglês	
Identificador: 	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100037	
Editor: 	Sociedade Brasileira de Genética	
Relação: 	10.1590/S1415-475738120140125	
Formato: 	text/html	
Fonte: 	Genetics and Molecular Biology  v.38 n.1 2015	
Fonte: 	info:eu-repo/semantics/openAccess