Flisikowski et al. [ 44] demonstrated a 110 kb microdeletions in the MER1 repeat containing imprinted transcript 1 (MIMT1) gene region to be linked to the incidence of abortions and stillbirths in cattle.
In brief, microsatellite analysis revealed biparentally derived homologs of chromosome 14, and a deletion analysis demonstrated a maternally inherited 108,768 bp microdeletion involving DLK1, the IG-DMR, the MEG3-DMR, and MEG3, but not affecting RTL1/ RTL1as.
Our study demonstrated a correlation between radiation exposure and microdeletions in the AZF regions.
We demonstrate that the microdeletions mostly affect IC1 function and CTCF binding by changing CTS spacing.
By analysing the mutant alleles both in vivo and in vitro, we demonstrate that the microdeletions generally affect IC1 function and binding to CTCF.
Eunjoon Kim and colleagues demonstrate that Shank2-mutant mice carrying a mutation identical to a microdeletion in the human SHANK2 gene that is associated with Autism spectrum disorder are hyperactive and exhibit autism-like behaviours, including disrupted social behaviours.
A study characterizing a microdeletion of 20q13.33, a cytogenetic locus in which COL9A3 is located, demonstrated that this abnormality is associated with several clinical features including mental retardation, developmental delay, speech and language deficits, behavior problems and seizures.
This has been demonstrated for a 520 kb microdeletion in 16p12.1 which was identified to be non-syndromic, associated with variable phenotypes and inherited from a parent in 95% of the cases (Girirajan et al, 2010a).
"A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies". BMC Neurology 16 (16: 162.
Oscillator is caused by a microdeletion in the gene coding for the alpha 1 subunit of the adult glycine receptor (Glra1).
