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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.)

Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity

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Autor(es):
D'Angelo, Carla S. ; Moller dos Santos, Mauren F. ; Alonso, Luis G. ; Koiffmann, Celia P.
Número total de Autores: 4
Tipo de documento: Artigo Científico
Fonte: MOLECULAR SYNDROMOLOGY; v. 6, n. 2, p. 63-70, 2015.
Citações Web of Science: 9
Resumo

due to duplication of the GNB3 gene. Thus, our findings add to the existing literature on the clinical description of these new syndromes, providing additional support that these loci are associated with syndromic obesity. We suggest that heterozygous loss of MIR137 may contribute to obesity as well as ID and ASD. Obesity is a highly heritable but genetically heterogeneous disorder. Various well-known microdeletion syndromes (e.g. 1p36, 2q37, 6q16, 9q34, 17p11.2) can cause this phenotype along with intellectual disability (ID) and other findings. Chromosomal microarrays have identified `new' microdeletion/duplication syndromes often associated with obesity. We report on 2 unrelated patients with an overlapping region of deletion at 1p21.3p21.2, and a third patient with a de novo recurrent unbalanced translocation der(8) t(8;12) (p23.1;p13.31), detected by 180K array CGH in a prospective cohort of syndromic obesity patients. Deletion of 1p21.3 is a rare condition, and there have been only 11 cases of the same recurrent translocation between chromosomes 8 and 12 {[}t(8; 12)] reported to date. The former has been associated with ID, autistic spectrum disorder (ASD) and mild dysmorphic features, and in 4 patients who were obese or had a tendency to obesity, a minimal overlapping region of 2 genes, DPYD and MIR137, was detected; t(8;12) has recently been recognized to cause a childhood obesity syndrome due to duplication of the GNB3 gene. Thus, our findings add to the existing literature on the clinical description of these new syndromes, providing additional support that these loci are associated with syndromic obesity. We suggest that heterozygous loss of MIR137 may contribute to obesity as well as ID and ASD. (C) 2015 S. Karger AG, Basel (AU)

Processo FAPESP: 98/14254-2 - Centro de Estudos do Genoma Humano
Beneficiário:Mayana Zatz
Linha de fomento: Auxílio à Pesquisa - Centros de Pesquisa, Inovação e Difusão - CEPIDs
Processo FAPESP: 09/52523-1 - Obesidade sindrômica: pesquisa de genes e segmentos cromossômicos associados à obesidade, descrição de novas síndromes e da variabilidade fenotípica em síndromes reconhecidas
Beneficiário:Carla Sustek D'Angelo
Linha de fomento: Bolsas no Brasil - Pós-Doutorado