We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

Results: 4

1.
Figure 3

Figure 3. From: TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities.

Spectrum of WMHs in the Children with TM4SF20 Deletion
T2 weighted and fluid-attenuated inversion recovery (FLAIR) sequence magnetic resonance imaging (MRI) scans of nine unrelated subjects with TM4SF20 deletion are presented, showing varying degrees of white matter disease observed as punctate T2 hyperintensities in the subcortical white matter and multifocal T2 hyperintensities in the periventricular and deep white matter of both cerebral hemispheres. Subject TM201, born prematurely, has gross enlargement of the third and lateral ventricles with near-complete loss of periventricular white matter. Subject TM301 has bilateral open lip schizencephaly in the frontal lobes. Prominent perivascular (VR) spaces are seen in TM501.

Wojciech Wiszniewski, et al. Am J Hum Genet. 2013 August 8; 2013 August 8;93(2):197-210.
2.
Figure 1

Figure 1. From: TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities.

Identification of TM4SF20 Exon 3 Deletion in Multiple Families Predominantly of Southeast Asian Descent
(A) Brain MRI study in family TM100 is highlighted, revealing hyperintensities on axial T2-weighted spin echo and confirmed on axial T2 FLAIR, consistent with foci of gliotic changes, and observed in the periventricular and deep subcortical white matter (marked with long white arrow) in the carrier child (II-1) and parent (I-2). The maternal brain MRI images (TM102) are shown at the top, and the images of the proband are illustrated below. Comparison is made with the age-matched normal corresponding MRI image. Note the thin corpus callosum (cc) in TM101. Generous biparietal extra-axial CSF spaces with mild diffuse volume loss is observed in the carrier parent (marked with short white arrow). Note the prominent Virchow-Robin (VR) spaces highlighted by the yellow arrow.
(B) Fourteen additional pedigrees are shown. Positive sign indicates presence of the deletion and negative sign highlights absence of the deletion.

Wojciech Wiszniewski, et al. Am J Hum Genet. 2013 August 8; 2013 August 8;93(2):197-210.
3.
Figure 4

Figure 4. From: TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities.

Molecular and Cellular Consequences of TM4SF20 Exon 3 Deletion
(A) Schematic of the wild-type (WT) and mutant (ΔEX3) TM4SF20 loci on human chromosome 2; red boxes, coding exons; white boxes, untranslated regions; dashed lines, intronic sequence; green boxes, deleted regions. Minigene construct to assay the splicing effect of ΔEx3; N-terminal GFP was cloned in-frame to a 3.2 kb region spanning exons 2 through 4. Chromatogram of the minigene RT-PCR product; black arrows indicate position of primers. Exons 2 and 4 are spliced together, introducing a stop codon at the end of exon 2.
(B) Schematic of WT and ΔEX3 TM4SF20 GFP fusion proteins. Blue, transmembrane domains (TM); black numbers indicate corresponding exons; amino acids abbreviated as AA.
(C) Confocal images of Neuro-2a cells transfected with N-terminal GFP TM4SF20-WT or TM4SF20-ΔEX3 constructs (green; left panels) and costained with α-tubulin (red; center panels) 24 hr after transfection. Blue, Hoeschst staining of nuclei; white asterisks, cells depicted in the insets (far right panels). Scale bars represent 10 μm.

Wojciech Wiszniewski, et al. Am J Hum Genet. 2013 August 8; 2013 August 8;93(2):197-210.
4.
Figure 2

Figure 2. From: TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities.

TM4SF20 Heterozygous Deletion and Breakpoint Analysis
(A and B) High-resolution array CGH analysis revealed a 4 kb deletion within 2q36.3 involving exon 3 of TM4SF20 (UCSC Genome Browser build GRCh37/hg19: 228,230,759–228,234,864).
(C and D) Long-range PCR analysis identified a common 1 kb junction fragment in all the affected subjects. Sequence analysis revealed a complex rearrangement with a 2.3 kb deletion with microhomology of GT at the first junction, followed by a neutral copy number region of approximately 100 bp (marked as gray bar-interrupted green), then a 1.7 kb deletion with insertion of a T at the second junction.
(E) The haplotype on which the TM4SF20 deletion segregates was determined for one Vietnamese, one Filipino, and three Burmese families. A haplotype of 30 kb (bracket labeled A, red) was found to be shared across all families. A longer haplotype of 90 kb (bracket labeled B, green) was shared between the Burmese and Filipino families. Burmese families shared a longer 467 kb haplotype (bracket labeled C, blue). All SNPs typed in these individuals and utilized in haplotype analyses are shown as black tick marks and the SNPs delineating haplotypes are labeled. RefSeq genes for this region are shown.

Wojciech Wiszniewski, et al. Am J Hum Genet. 2013 August 8; 2013 August 8;93(2):197-210.

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Write to the Help Desk