Data/hora: 10/06/2024 07:37:20

Provedor de dados: 	Genetics and Molecular Biology	
País: 	Brazil	
Título: 	Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome	
Autores: 	Porto,Marianna P.R.; Vergani,Naja; Carvalho,Antonio Carlos C.; Cernach,Mirlene C.S.P.; Brunoni,Decio; Perez,Ana Beatriz A.	
Data: 	2010-01-01	
Ano: 	2010	
Palavras-chave: 	Holt-Oram syndrome; Congenital heart disease; TBX5 gene; GATA gene; NKX2.5 gene; Mutation analysis.	
Resumo: 	The Holt-Oram syndrome (HOS) is an autosomal dominant condition characterized by upper limb and cardiac malformations. Mutations in the TBX5 gene cause HOS and have also been associated with isolated heart and arm defects. Interactions between the TBX5, GATA4 and NKX2.5 proteins have been reported in humans. We screened the TBX5, GATA4, and NKX2.5 genes for mutations, by direct sequencing, in 32 unrelated patients presenting classical (8) or atypical HOS (1), isolated congenital heart defects (16) or isolated upper-limb malformations (7). Pathogenic mutations in the TBX5 gene were found in four HOS patients, including two new mutations (c.374delG; c.678G &gt; T) in typical patients, and the hotspot mutation c.835C &gt; T in two patients, one of them with an atypical HOS phenotype involving lower-limb malformations. Two new mutations in the GATA4 gene were found in association with isolated upper-limb malformations, but their clinical significance remains to be established. A previously described possibly pathogenic mutation in the NKX2.5 gene (c.73C &gt; 7) was detected in a patient with isolated heart malformations and also in his clinically normal father.	
Tipo: 	Info:eu-repo/semantics/article	
Idioma: 	Inglês	
Identificador: 	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000200006	
Editor: 	Sociedade Brasileira de Genética	
Relação: 	10.1590/S1415-47572010005000051	
Formato: 	text/html	
Fonte: 	Genetics and Molecular Biology  v.33 n.2 2010	
Fonte: 	info:eu-repo/semantics/openAccess