Idioma:

What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study

Bianco, Anna Monica ; Ragusa, Giulia ; Di Carlo, Valentina ; Faletra, Flavio ; Di Stazio, Mariateresa ; Racano, Costantina ; Trisolino, Giovanni ; Cappellani, Stefania ; De Pellegrin, Maurizio ; d’Addetta, Ignazio ; Carluccio, Giuseppe ; Monforte, Sergio ; Andreacchio, Antonio ; Dibello, Daniela ; d’Adamo, Adamo P.

Genes, 2022-10, Vol.13 (11), p.1958 [Periódico revisado por pares]

Basel: MDPI AG

Texto completo disponível

Citações Citado por

Enviar para

Título:
What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study
Autor: Bianco, Anna Monica ; Ragusa, Giulia ; Di Carlo, Valentina ; Faletra, Flavio ; Di Stazio, Mariateresa ; Racano, Costantina ; Trisolino, Giovanni ; Cappellani, Stefania ; De Pellegrin, Maurizio ; d’Addetta, Ignazio ; Carluccio, Giuseppe ; Monforte, Sergio ; Andreacchio, Antonio ; Dibello, Daniela ; d’Adamo, Adamo P.
Assuntos: Classification ; Clubfoot ; congenital malformation ; congenital talipes equinovarus ; Etiology ; Families & family life ; Feet ; Foot diseases ; Genes ; Genotype & phenotype ; Maternal & child health ; Mutation ; Orthopedics ; Patients ; Pediatrics ; PITX1 ; Single-nucleotide polymorphism ; TBX4
É parte de: Genes, 2022-10, Vol.13 (11), p.1958
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
Descrição: Congenital clubfoot is a common pediatric malformation that affects approximately 0.1% of all births. 80% of the cases appear isolated, while 20% can be secondary or associated with complex syndromes. To date, two genes that appear to play an important role are PTIX1 and TBX4, but their actual impact is still unclear. Our study aimed to evaluate the prevalence of pathogenic variants in PITX1 and TBX4 in Italian patients with idiopathic clubfoot. PITX1 and TBX4 genes were analyzed by sequence and SNP array in 162 patients. We detected only four nucleotide variants in TBX4, predicted to be benign or likely benign. CNV analysis did not reveal duplications or deletions involving both genes and intragenic structural variants. Our data proved that the idiopathic form of congenital clubfoot was rarely associated with mutations and CNVs on PITX1 and TBX4. Although in some patients, the disease was caused by mutations in both genes; they were responsible for only a tiny minority of cases, at least in the Italian population. It was not excluded that other genes belonging to the same TBX4-PITX1 axis were involved, even if genetic complexity at the origin of clubfoot required the involvement of other factors.
Editor: Basel: MDPI AG
Idioma: Inglês

Voltar para lista de resultados

Anterior Resultado 7 Avançar Ir para próxima página

Realização: Logos de Redes Sociais:

What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study

Basel: MDPI AG

Buscando em bases de dados remotas. Favor aguardar.