Investigation of mutations in synaptic genes SHANK3 and SHANK2 in autistic spectru...
| Full text | |
| Author(s): Show less - |
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
[1, 4]
;
O' Halloran, Eoghan
[5]
;
Magalhaes, Tiago R.
[5, 6]
;
Fett-Conte, Agnes C.
[2]
;
Passos-Bueno, Maria Rita
[1]
Total Authors: 14
|
| Affiliation: | [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 |
| Abstract | |
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 |