Premium
The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders
Author(s) -
Rizzo Ambra,
Alfei Enrico,
Zibordi Federica,
Saletti Veronica,
Zorzi Giovanna,
Freri Elena,
Estienne Margherita,
Girgenti Vita,
D'Arrigo Stefano,
Esposito Silvia,
Buldrini Barbara,
Moroni Isabella,
Milani Donatella,
Granata Tiziana,
Ardissone Anna,
Eoli Marica,
Molteni Bruna,
Bigoni Stefania,
Pantaleoni Chiara,
Nardocci Nardo,
Sciacca Francesca Luisa
Publication year - 2018
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.32649
Subject(s) - neurocognitive , copy number variation , locus (genetics) , cohort , penetrance , genetics , biology , bioinformatics , gene , medicine , neuroscience , cognition , genome , phenotype
The presence of redundant copy number variants (CNVs) in groups of patients with neurological diseases suggests that these variants could have pathogenic effect. We have collected array comparative genomic hybridization (CGH) data of about 2,500 patients affected by neurocognitive disorders and we observed that CNVs in 2p16.3 locus were as frequent as those in 15q11.2, being both the most frequent unbalances in our cohort of patients. Focusing to 2p16.3 region, unbalances involving NRXN1 coding region have been already associated with neuropsychiatric disorders, although with incomplete penetrance, but little is known about CNVs located proximal to the gene, in the long noncoding RNA AK127244. We found that, in our cohort of patients with neuropsychiatric disorders, the frequency of CNVs involving AK127244 was comparable to that of NRXN1 gene. Patients carrying 2p16.3 unbalances shared some common clinical characteristics regardless NRXN1 and AK127244 CNVs localization, suggesting that the AK127244 long noncoding RNA could be involved in neurocognitive disease with the same effect of NRXN1 unbalances. AK127244 as well as NRXN1 unbalances seem to have a particular influence on language development, behavior or mood, according with the topographic correlation between NRXN1 expression and prefrontal cortex functions.