First Korean Case of<i> SATB2</i>-Associated 2q32-q33 Microdeletion Syndrome

Yu, Nae; Shin, Saeam; Lee, Kyung A.

doi:10.3343/alm.2015.35.2.275

Cited by 7 publications

(9 citation statements)

References 10 publications

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“…Satb2 is required for the development of a spinal exteroceptive microcircuit that modulates limb position [ 48 ]. As deletion in the transcription factor Satb2 leads to the development of epilepsy and developmental delay in people [ 19 , 49 ] and duplication of Satb2 can also induce epilepsy and autistic behavior [ 50 ], the importance of investigation of the molecular and cellular mechanisms of the Satb2 effect in the brain leading to the induction of neurodegenerative processes is apparent. Glial cells, astrocytes, and microglia are also involved in the induction and pathogenesis of most neurodegenerative disorders [ 51 ].…”

Section: Discussionmentioning

confidence: 99%

Role of Satb1 and Satb2 Transcription Factors in the Glutamate Receptors Expression and Ca2+ Signaling in the Cortical Neurons In Vitro

Turovsky

Turovskaya

Fedotova

et al. 2021

IJMS

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Transcription factors Satb1 and Satb2 are involved in the processes of cortex development and maturation of neurons. Alterations in the expression of their target genes can lead to neurodegenerative processes. Molecular and cellular mechanisms of regulation of neurotransmission by these transcription factors remain poorly understood. In this study, we have shown that transcription factors Satb1 and Satb2 participate in the regulation of genes encoding the NMDA-, AMPA-, and KA- receptor subunits and the inhibitory GABA(A) receptor. Deletion of gene for either Satb1 or Satb2 homologous factors induces the expression of genes encoding the NMDA receptor subunits, thereby leading to higher amplitudes of Ca2+-signals in neurons derived from the Satb1-deficient (Satb1fl/+ * NexCre/+) and Satb1-null mice (Satb1fl/fl * NexCre/+) in response to the selective agonist reducing the EC50 for the NMDA receptor. Simultaneously, there is an increase in the expression of the Gria2 gene, encoding the AMPA receptor subunit, thus decreasing the Ca2+-signals of neurons in response to the treatment with a selective agonist (5-Fluorowillardiine (FW)). The Satb1 deletion increases the sensitivity of the KA receptor to the agonist (domoic acid), in the cortical neurons of the Satb1-deficient mice but decreases it in the Satb1-null mice. At the same time, the Satb2 deletion decreases Ca2+-signals and the sensitivity of the KA receptor to the agonist in neurons from the Satb1-null and the Satb1-deficient mice. The Satb1 deletion affects the development of the inhibitory system of neurotransmission resulting in the suppression of the neuron maturation process and switching the GABAergic responses from excitatory to inhibitory, while the Satb2 deletion has a similar effect only in the Satb1-null mice. We show that the Satb1 and Satb2 transcription factors are involved in the regulation of the transmission of excitatory signals and inhibition of the neuronal network in the cortical cell culture.

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Section: Discussionmentioning

confidence: 99%

Role of Satb1 and Satb2 Transcription Factors in the Glutamate Receptors Expression and Ca2+ Signaling in the Cortical Neurons In Vitro

Turovsky

Turovskaya

Fedotova

et al. 2021

IJMS

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“…In this individual, a G banded karyotype of peripheral lymphocytes showed an interstitial deletion of the long arm of chromosome 2: del(2)(q32.2q33.1) [Glass et al, ]. Since this report, several other cases of 2q deletions have been reported but only 17 with sufficient molecular characterization to determine that the SATB2 gene was part of the deleted region [Van Buggenhout et al, ; de Ravel et al, ; Urquhart et al, ; Rifai et al, ; Balasubramanian et al, ; Mc Cormack et al, ; Tomaszewska et al, ; Yu et al, ; Gregoric Kumperscak et al, ]. The deletions range in size from 2.4 to 26.3 Mb.…”

Section: Clinical Datamentioning

confidence: 98%

SATB2‐associated syndrome: Mechanisms, phenotype, and practical recommendations

Zárate

Fish

2016

American J of Med Genetics Pt A

123

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The SATB2‐associated syndrome is a recently described syndrome characterized by developmental delay/intellectual disability with absent or limited speech development, craniofacial abnormalities, behavioral problems, dysmorphic features, and palatal and dental abnormalities. Alterations of the SATB2 gene can result from a variety of different mechanisms that include contiguous deletions, intragenic deletions and duplications, translocations with secondary gene disruption, and point mutations. The multisystemic nature of this syndrome demands a multisystemic approach and we propose evaluation and management guidelines. The SATB2‐associated syndrome registry has now been started and that will allow gathering further clinical information and refining the provided surveillance recommendations. © 2016 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.

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“…Detailed clinical information from 17 novel individuals with deletions that included SATB2 entirely (6 males and 11 females, mean age of 6.8 years, age range of 6 months–34 years), along with the cumulative prevalence of clinical features of all 50 individuals (17 from this cohort and 33 individuals previously reported in the literature) are presented in Table 1 6,12‐21 . Two individuals from the literature with 2q33.1 deletions that did not include SATB2 but had breakpoints near it were included in the ΔSAS group given the known presence of regulatory elements at least on the 3′ end of SATB2 and their overlapping phenotypic features with those reported in SAS 12 .…”

Section: Resultsmentioning

confidence: 99%

Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2

et al. 2021

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SATB2‐Associated syndrome (SAS) is an autosomal dominant, multisystemic, neurodevelopmental disorder due to alterations in SATB2 at 2q33.1. A limited number of individuals with 2q33.1 contiguous deletions encompassing SATB2 (ΔSAS) have been described in the literature. We describe 17 additional individuals with ΔSAS, review the phenotype of 33 previously published individuals with 2q33.1 deletions (n = 50, mean age = 8.5 ± 7.8 years), and provide a comprehensive comparison to individuals with other molecular mechanisms that result in SAS (non‐ΔSAS). Individuals in the ΔSAS group were often underweight for age (20/41 = 49%) with a progressive decline in weight (95% CI = −2.3 to −1.1, p < 0.0001) and height (95% CI = −2.3 to −1.0, p < 0.0001) Z‐score means from birth to last available measurement. ΔSAS individuals were often noted to have a broad spectrum of facial dysmorphism. A composite image of ΔSAS individuals generated by automated image analysis was distinct as compared to matched controls and non‐ΔSAS individuals. We also present additional genotype–phenotype correlations for individuals in the ΔSAS group such as an increased risk for aortic root/ascending aorta dilation and primary pulmonary hypertension for those individuals with contiguous gene deletions that include COL3A1/COL5A2 and BMPR2, respectively. Based on these findings, we provide additional care recommendations for individuals with ΔSAS variants.

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First Korean Case of SATB2-Associated 2q32-q33 Microdeletion Syndrome

Cited by 7 publications

References 10 publications

Role of Satb1 and Satb2 Transcription Factors in the Glutamate Receptors Expression and Ca2+ Signaling in the Cortical Neurons In Vitro

Role of Satb1 and Satb2 Transcription Factors in the Glutamate Receptors Expression and Ca2+ Signaling in the Cortical Neurons In Vitro

SATB2‐associated syndrome: Mechanisms, phenotype, and practical recommendations

Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2

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