11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures

American Journal of Medical Genetics. Part a
Anna MaruaniRichard Delorme

Abstract

Jacobsen syndrome (JS) is characterized by intellectual disability and higher risk for autism spectrum disorders (ASD). All patients with JS are carriers of contiguous de novo deletions of 11q24.2-25, but the causative genes remain unknown. Within the critical interval, we hypothesized that haploinsufficiency of the neuronal cell adhesion molecule Neurotrimin (NTM) might increase the risk for ASD and could affect brain structure volumes. We searched for deleterious mutations affecting NTM in 1256 ASD patients and 1287 controls, using SNP arrays, and by direct sequencing of 250 ASD patients and 180 controls. We compared our results to those obtained from independent cohorts of ASD patients and controls. We identified two patients with Copy Number Variants (CNV) encompassing NTM, one with a large de novo deletion, and a clinical phenotype of JS (including macrocephaly), and a second with a paternally inherited duplication, not consistent with JS. Interestingly, no similar CNVs were observed in controls. We did not observe enrichment for deleterious NTM mutations in our cohort. We then explored if the macrocephaly in the patient with JS was associated with a homogeneous increase of brain structures volumes using automatic segmenta...Continue Reading

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Citations

Mar 30, 2016·Journal of Applied Genetics·Elisa TassanoCristina Cuoco
Oct 28, 2016·Behavioural Brain Research·Timur MazitovEero Vasar
Feb 23, 2019·Frontiers in Psychiatry·Anna MaruaniRichard Delorme

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