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(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients

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Autor(es):
Ferreira, Lize V. [1] ; Souza, Silvia C. A. L. [1] ; Montenegro, Luciana R. [1] ; Malaquias, Alexsandra C. [1] ; Arnhold, Ivo J. P. [1] ; Mendonca, Berenice B. [1] ; Jorge, Alexander A. L. [1]
Número total de Autores: 7
Afiliação do(s) autor(es):
[1] Univ Sao Paulo, Fac Med, Unidade Endocrinol Desenvolvimento, Lab Hormonios & Genet Mol LIM 42, Disciplina Endoc, Sao Paulo - Brazil
Número total de Afiliações: 1
Tipo de documento: Artigo Científico
Fonte: Clinical Endocrinology; v. 69, n. 3, p. 426-431, Sept. 2008.
Área do conhecimento: Ciências da Saúde - Medicina
Citações Web of Science: 5
Assunto(s):Síndrome de Noonan
Resumo

Mutations in the PTPN11 gene are the main cause of Noonan syndrome (NS). The presence of some NS features is a frequent finding in children with idiopathic short stature (ISS). These children can represent the milder end of the NS clinical spectrum and PTPN11 is a good candidate for involvement in the pathogenesis of ISS. To evaluate the presence of mutations in PTPN11 in ISS children who presented NS-related signs and in well-characterized NS patients. We studied 50 ISS children who presented at least two NS-associated signs but did not fulfil the criteria for NS diagnosis. Forty-nine NS patients diagnosed by the criteria of van der Burgt et al.3 were used to assess the adequacy of these criteria to select patients for PTPN11 mutation screening. The coding region of PTPN11 was amplified by polymerase chain reaction (PCR), followed by direct sequencing. No mutations or polymorphisms were found in the coding region of the PTPN11 gene in ISS children. Nineteen of the 49 NS patients (39%) presented mutations in PTPN11. No single characteristic enabled us to distinguish between NS patients with or without PTPN11 mutations. Considering that no mutations were found in the present cohort with NS-related signs, it is unlikely that mutations would be found in unselected ISS children. The van der Burgt et al. criteria are adequate in attaining NS diagnosis and selecting patients for molecular studies. Mutations in the PTPN11 gene are commonly involved in the pathogenesis of NS but are not a common cause of ISS. (AU)

Processo FAPESP: 05/04726-0 - Caracterização molecular das doenças endócrinas congênitas que afetam o crescimento e o desenvolvimento
Beneficiário:Ana Claudia Latronico Xavier
Linha de fomento: Auxílio à Pesquisa - Temático
Processo FAPESP: 05/50144-2 - Determinação da sensibilidade ao IGF-1 de fibroblastos de crianças nascidas pequenas para a idade gestacional
Beneficiário:Luciana Ribeiro Montenegro
Linha de fomento: Bolsas no Brasil - Doutorado Direto