Partial deletion of the long arm of chromosome 11 [del(11)(q23.3→qter)] with abnormal white matter

Wardinsky, Terrance D.; Weinberger, Ed; Pagon, Roberta A; Clarren, Sterling K.; Thuline, Horace C.

doi:10.1002/ajmg.1320350111

Cited by 27 publications

(15 citation statements)

References 10 publications

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“…Therefore, haploinsufficiency of MBP has been suggested to be responsible for white matter abnormalities seen in 18qϪ patients. The specificity of these findings has been questioned (11), because white matter changes are frequently found in other malformation syndromes as well, like in chromosome 11q and 14q deletions (12)(13)(14)(15)(16). However, the hypothesis of MBP haploinsufficiency was supported by Gay et al (17) who, using fluorescence in situ hybridization (FISH), found incomplete myelination in all 18qϪ patients with one copy of the MBP gene, while a single patient with two copies of the MBP gene had normal MRI.…”

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confidence: 99%

18q− Syndrome: Brain MRI shows poor differentiation of gray and white matter on T2‐weighted images

Linnankivi

Autti

Pihko

et al. 2003

Magnetic Resonance Imaging

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Purpose:To study brain MRI findings in patients with 18qϪ syndrome and to correlate these findings with the results of the molecular breakpoint analysis. Materials and Methods:Brain MR images of 17 patients with 18qϪ syndrome were evaluated. Segregation analysis was performed with 15 microsatellite markers to determine the deletion breakpoints and whether the deletion included the myelin basic protein (MBP) gene. Results:One patient had an interstitial deletion of 18q which spared the MBP gene. He was the only one with normal brain MRI. All 16 patients with deletions including the MBP gene had abnormal white matter in MRI. The main finding was poor differentiation of gray and white matter on T2-weighted images due to increased white matter signal intensity. In addition, measured signal intensity of the white matter was significantly increased in patients compared with controls. Conclusions:Poor differentiation of gray and white matter on T2-weighted images is the most typical MRI finding of the 18qϪ syndrome. These results support the postulation that abnormal myelination in 18qϪ syndrome is due to haploinsufficiency at or near the MBP locus.

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confidence: 99%

18q− Syndrome: Brain MRI shows poor differentiation of gray and white matter on T2‐weighted images

Linnankivi

Autti

Pihko

et al. 2003

Magnetic Resonance Imaging

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“…Taysi et al observed trisomy of the long arm of Chromosome 1 in patients manifesting mental retardation and growth malformations (Taysi & Sekhon, ). The deletion of q23 to qter region of Chromosome 11 has also been associated with mental retardation, cognitive, and developmental defects (Wardinsky, Weinberger, Pagon, Clarren, & Thuline, ). Similar neurocognitive and behavioural defects were manifested in individuals containing deletion of the 11q23 to qter region (Akshoomoff, Mattson, & Grossfeld, ; Coldren et al, ).…”

Section: Discussionmentioning

confidence: 99%

“…(Taysi & Sekhon, 1978). The deletion of q23 to qter region of Chromosome 11 has also been associated with mental retardation, cognitive, and developmental defects (Wardinsky, Weinberger, Pagon, Clarren, & Thuline, 1990). Similar neurocognitive and behavioural defects were manifested in individuals containing deletion of the 11q23 to qter region (Akshoomoff, Mattson, & Grossfeld, 2015;Coldren et al, 2009 Therefore, the exact mechanisms involved in this unexpected outcome need to be investigated thoroughly.…”

Section: Discussionmentioning

confidence: 99%

Improved neural differentiation of normal and abnormal induced pluripotent stem cell lines in the presence of valproic acid

Fernandes

Vinnakota

Kumar

et al. 2019

J Tissue Eng Regen Med

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During the generation of induced pluripotent stem cell (iPSC) lines from cord blood CD34+ cells, a line having complete trisomy of Chromosome 1 and deletion of q23 to qTer of Chromosome 11 was accidentally developed in our lab. The abnormality was consistently detected even at higher passages. These chromosomal anomalies are known to manifest neurological developmental defects. In order to examine if such defects occur during in vitro differentiation of the cell line, we set up a protocol for neural differentiation. Valproic acid (VPA) was earlier reported by us to enhance neural differentiation of placental mesenchymal stem cells. Here, we induced normal and abnormal iPSC lines to neural lineage with/without VPA. Neural differentiation was observed in all four sets, but for both the iPSCs lines, VPA sets performed better. The characteristics tested were morphology, neural filament length, detection of neural markers, and electrophysiology. In summary, the karyotypically abnormal line exhibited efficient neural differentiation. This iPSC line may serve as a useful tool to study abnormalities associated with trisomy 1 and deletion of q23 to qTer of Chromosome 11.

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“…β1, β3 and N-CAM all possess immunoglobulin domains which may interact with extracellular matrix molecules. Deletions of chromosome 11 from 11q23 to the terminus have been shown to be associated with delayed myelination or demyelinating diseases [20,33] which could be associated with loss of β2, β3 or N-CAM genes. A mutation in the related β1 gene, SCN1B, is associated with febrile seizures and generalized epilepsy [31].…”

Section: Discussionmentioning

confidence: 99%

Tissue distribution and functional expression of the human voltage-gated sodium channel β3 subunit

Stevens

Cox

Shah

et al. 2001

Pfl�gers Archiv European Journal of Physiology

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This study investigated the distribution of beta3 in human tissues and the functional effects of the human beta3 subunit on the gating properties of brain and skeletal muscle alpha subunits. Using RT-PCR of human cDNA panels, beta3 message was detected in brain, heart, kidney, lung, pancreas and skeletal muscle. Both alphaIIA and SkM1 expressed in Xenopus oocytes inactivated with a time course described by two exponential components representing fast and slow gating modes, while co-expression of human beta3 with alphaIIA or SkM1 significantly increased the proportion of channels operating by the fast gating mode. In the presence of beta3 a greater proportion of alphaIIA or SkM1 current was described by the fast time constant for both inactivation and recovery from inactivation. beta3 caused a hyperpolarizing shift in the voltage dependence of inactivation of alphaIIIA and reduced the slope factor. The voltage dependence of inactivation of SkM1 was described by a double Boltzmann equation. However, SkM1 co-expressed with beta3 was described by a single Boltzmann equation similar to one of the Boltzmann components for SkM1 expressed alone, with a small positive shift in V1/2 value and reduced slope factor. This is the first study demonstrating that beta3 is expressed in adult mammalian skeletal muscle and can functionally couple to the skeletal muscle alpha subunit, SkM1.

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Partial deletion of the long arm of chromosome 11 [del(11)(q23.3→qter)] with abnormal white matter

Cited by 27 publications

References 10 publications

18q− Syndrome: Brain MRI shows poor differentiation of gray and white matter on T2‐weighted images

18q− Syndrome: Brain MRI shows poor differentiation of gray and white matter on T2‐weighted images

Improved neural differentiation of normal and abnormal induced pluripotent stem cell lines in the presence of valproic acid

Tissue distribution and functional expression of the human voltage-gated sodium channel β3 subunit

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