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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.)

Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients

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Autor(es):
Varela, Monica Castro [1] ; Kok, Fernando ; Setian, N. ; Koiffmann, Celia Priszkulnik
Número total de Autores: 4
Afiliação do(s) autor(es):
[1] Universidade de São Paulo (USP). Instituto de Biociências. Departamento de Genética e Biologia Evolutiva - Brasil
Número total de Afiliações: 4
Tipo de documento: Artigo Científico
Fonte: Clinical Genetics; v. 67, n. 1, p. 47-52, Jan. 2005.
Área do conhecimento: Ciências Biológicas - Genética
Assunto(s):Genética médica   Síndrome de Prader-Willi   Fenótipo
Resumo

Prader-Willi syndrome (PWS) can result from a 15q11-q13 paternal deletion, maternal uniparental disomy (UPD), or imprinting mutations. We describe here the phenotypic variability detected in 51 patients with different types of deletions and 24 patients with UPD. Although no statistically significant differences could be demonstrated between the two main types of PWS deletion patients, it was observed that type I (BP1-BP3) patients acquired speech later than type II (BP2-BP3) patients. Comparing the clinical pictures of our patients with UPD with those with deletions, we found that UPD children presented with lower birth length and started walking earlier and deletion patients presented with a much higher incidence of seizures than UPD patients. In addition, the mean maternal age in the UPD group was higher than in the deletion group. No statistically significant differences could be demonstrated between the deletion and the UPD group with respect to any of the major features of PWS. In conclusion, our study did not detect significant phenotypic differences among type I and type II PWS deletion patients, but it did demonstrate that seizures were six times more common in patients with a deletion than in those with UPD. (AU)

Processo FAPESP: 99/10414-8 - Caracterização dos pontos de quebra em pacientes com deleção ou duplicação do segmento 15q11 - q13 e suas consequências fenotípicas
Beneficiário:Monica Castro Varela
Linha de fomento: Bolsas no Brasil - Doutorado