Acta Neuropathologica: 1q chromosome mosaics in human brain tissue are associated with one-sided multiple brain retardation, early onset epilepsy, and severe stunting.

Polycephaly (PMG) is a developmental cortical malformation characterized by small, round excessive rotation and abnormal cortical stratation.
PMG can be confined to a single brain back, involving only a portion of a hemisphere, and can be two-sidedly asymmetric, two-sidedly symmetrical, or diffuse.
PMG is often associated with seizures.
mechanism of PMG is not yet known.
about 40 genes are associated with PMG, and there are small copy number variations in selected patients.
recently provided evidence that epilepsy-related structural brain injury can be classified according to genomic DNA methylation patterns.
PMG can be confined to a single brain back, involving only a portion of a hemisphere, and can be two-sidedly asymmetric, two-sidedly symmetrical, or diffuse.
here, we analyzed 26 PMG patients for array-based DNA methylation analysis on the Formarin fixed paraffin burial material.
used 62 well-characterized non-PMG cortical malformations (2a/b type of lesions and semi-brain malformations), temporal lobe epilepsy and non-epileptic autopsy control groups as reference queues.
unsealed de-peacekeeping and clustering analysis of DNA methylation spectrum showed that PMG formed a unique DNA methylation category.
analysis of copies of DNA methylation data showed that 7 out of 26 PMG patients had a uniform repetition throughout the long arm of chromosome 1, as confirmed by additional fluorescent in-place hybridization analysis.
in each case, about 50 percent of the nuclei at the center of PMG lesions were 1q triplets.
no chromosomal imbalances were found in adjacent structurally normal tissues, indicating mosaics.
clinically, PMG 1q patients showed up as one-sided frontal or heme PMG, without semi-brain malformations, a severe resuscable epilepsy that occurs in the first few months of life and causes severe stunting.
our results suggest that PMG can be classified as other structural brain injuries based on DNA methylation of PMG.
one of the clinically distinct PMG sub-groups showed chromosomal arm 1q repetition.
: Fluorescent in-place hybridization analysis was carried out on FFPE slices in 10 representative cases, and there was no change in the distribution of copy number.
analysis of slices of lesions (with PMG) and tissue blocks (without PMG) from the same patient.
use 1q21 CKS1B spectral orange / 1p32 CDKN2C spectral green fluorescent probe kit (Vysis Abbott).
pre-treatment, hybridization, post-hybridization and signal detection of the slides are carried out as reported elsewhere.
two independent researchers evaluated samples that showed sufficient fluorescent in-place hybridization efficiency (90% signaled nuclei).
to record signals in at least 300 non-overlapping complete nucleuts.
1q tribody/gain is defined as the signal that 15% of the nuclei contain three or more of their respective gene base probes, if no such finding is detected in the 1p gene base (excluding polyplis).
Therefore, regardless of the small research queue, our data show that surgical treatment is recommended and associated with good seizure outcomes in patients with one-sided PMG-resistant eclampsia.
our experimental data support the comprehensive molecular genetics and histological disease classification of cortical malformations, including PMG.
addition, we found a new group of patients with one-sided PMG, very early onset of eclampsia and brain-inset 1q full-arm replication.
Kobow, K., Jabari, S., Pieper, T. et al. Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay. Acta Neuropathol (2020). MedSci Original Source: MedSci Original Copyright Notice: All text, images and audio and video materials on this website that indicate "Source: Mets Medicine" or "Source: MedSci Originals" are owned by Mets Medicine and are not authorized to be reproduced by any media, website or individual, and are authorized to be reproduced with the words "Source: Mets Medicine".
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