New publication on HMG!

31 Jan , 2014 [:it]News da Microgenomics[:en]News from Microgenomics[:]

New publication on HMG!

Microgenomics Staff invites you to read an interesting paper, published on Human Molecular Genetics Journal, it is the result of a collaboration between several European centers.

In this work A.C. Lionel and his colleagues have focused on the study of Copy Number Variation in 9q33.1 and rare map that involves the gene ASTN2. This gene encodes a protein, the astrotactina 2, expressed in the brain and involved, together with ASTN1, in neuronal migration during brain development .

Were studied 46 patients with neurodevelopmental disorders presenting with gene deletions ASTN2 and 12 patients with duplications of the same gene. The phenotype most frequently observed in these patients includes: autism spectrum disorders, attention deficit disorder/hyperactivity disorder, speech delay, anxiety and obsessive-compulsive disorders.

Authors of this work have also focused on ASTN1 ASTN2 expression and elucidating the role of these two different astroactine during human neurological development.

The publication , entitled Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes, is available on PubMed.

Some collaborators of Microgenomics Laboratory participated to the draft of the paper, then for any further information on this topic or if you can not view the full article , please write us at info@microgenomics.it

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