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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in Autism Spectrum Disorder Brazilian Individuals with and without Epilepsy

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Moreira, Danielle P. [1] ; Griesi-Oliveira, Karina [1] ; Bossolani-Martins, Ana L. [2] ; Lourenco, Naila C. V. [1] ; Takahashi, Vanessa N. O. [1] ; da Rocha, Katia M. [1] ; Moreira, Eloisa S. [1] ; Vadasz, Estevao [3] ; Castro Meira, Joanna Goes [1] ; Bertola, Debora [4, 1] ; O' Halloran, Eoghan [5] ; Magalhaes, Tiago R. [5, 6] ; Fett-Conte, Agnes C. [2] ; Passos-Bueno, Maria Rita [1]
Total Authors: 14
[1] Univ Sao Paulo, Inst Biociencias, Ctr Pesquisas Genoma Humano & Celulas Tronco, Dept Genet & Biol Evolut, Sao Paulo - Brazil
[2] Fac Med Sao Jose do Rio Preto, Dept Biol Mol, Sao Jose Do Rio Preto, SP - Brazil
[3] Univ Sao Paulo, Fac Med, Hosp Clin, Inst Psiquiatria, Sao Paulo - Brazil
[4] Univ Sao Paulo, Fac Med, Inst Crianca, Sao Paulo - Brazil
[5] Natl Univ Ireland Univ Coll Dublin, Sch Med & Med Sci, Acad Ctr Rare Dis, Dublin 4 - Ireland
[6] Our Ladys Childrens Hosp, Natl Childrens Res Ctr, Dublin - Ireland
Total Affiliations: 6
Document type: Journal article
Source: PLoS One; v. 9, n. 9 SEP 25 2014.
Web of Science Citations: 12

Copy number variations (CNVs) are an important cause of ASD and those located at 15q11-q13, 16p11.2 and 22q13 have been reported as the most frequent. These CNVs exhibit variable clinical expressivity and those at 15q11-q13 and 16p11.2 also show incomplete penetrance. In the present work, through multiplex ligation-dependent probe amplification (MLPA) analysis of 531 ethnically admixed ASD-affected Brazilian individuals, we found that the combined prevalence of the 15q11-q13, 16p11.2 and 22q13 CNVs is 2.1% (11/531). Parental origin could be determined in 8 of the affected individuals, and revealed that 4 of the CNVs represent de novo events. Based on CNV prediction analysis from genome-wide SNP arrays, the size of those CNVs ranged from 206 kb to 2.27 Mb and those at 15q11-q13 were limited to the 15q13.3 region. In addition, this analysis also revealed 6 additional CNVs in 5 out of 11 affected individuals. Finally, we observed that the combined prevalence of CNVs at 15q13.3 and 22q13 in ASD-affected individuals with epilepsy (6.4%) was higher than that in ASD-affected individuals without epilepsy (1.3%; p < 0.014). Therefore, our data show that the prevalence of CNVs at 15q13.3, 16p11.2 and 22q13 in Brazilian ASD-affected individuals is comparable to that estimated for ASD-affected individuals of pure or predominant European ancestry. Also, it suggests that the likelihood of a greater number of positive MLPA results might be found for the 15q13.3 and 22q13 regions by prioritizing ASD-affected individuals with epilepsy. (AU)

FAPESP's process: 08/57899-7 - Stem cells in human genetic diseases - CETGEN
Grantee:Mayana Zatz
Support type: Research Projects - Thematic Grants
FAPESP's process: 13/08028-1 - CEGH-CEL - Human Genome and Stem Cell Research Center
Grantee:Mayana Zatz
Support type: Research Grants - Research, Innovation and Dissemination Centers - RIDC