A Novel 1.0 Mb Duplication of Chromosome 8p22-21.3 in a Patient With                     Autism Spectrum Disorder

Dong, Ping; Xu, Qiong; An, Yu; Zhou, Bo; Lü, Ping; Liu, Ren-Chao; Xu, Xiu

doi:10.1177/2329048x15580673

Cited by 7 publications

(3 citation statements)

References 28 publications

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“…Our patient also had a de novo duplication that included 8p23.3, DLGAP2 gene, respectively. Different chromosomal interstitial 8p rearrangements, including duplications, have been associated with ASD ( 17 , 28 , 29 ).…”

Section: Discussionmentioning

confidence: 99%

De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review

et al. 2020

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Duplications of chromosome 8p lead to rare genetic conditions characterized by variable phenotypes. 8p21 and 8p23 duplications were associated with mental retardation but only 8p23 duplication was associated with heart defects. 8p22→ p21.3 duplications were associated with an autism spectrum disorder in several cases. We present a rare case with a de novo duplication of the entire 8p21.3→ p23.3 region, documented by karyotype, FISH, and array CGH, with t(4;8)(q35;p21.3) translocation in a 7 years-old girl. She was referred for genetic counseling at the age of 20 months due to mild dysmorphic facial features, psychomotor retardation, and a noncyanotic heart defect. Another examination carried out at the age of 5 years, enabled the diagnosis of autism spectrum disorder and attention deficit hyperactivity disorder. Upon re-examination after two years she was diagnosed with autism spectrum disorder, attention deficit hyperactivity disorder, liminal intellect with cognitive disharmony, delay in psychomotor acquisitions, developmental language delay, an instrumental disorder, and motor coordination disorder. Cytogenetic analysis using GTG technique revealed the following karyotype: 46,XX,der(4),t(4;8)(q35;p21.3). The translocation of the duplicated 8pter region to the telomeric region 4q was confirmed by FISH analysis (DJ580L5 probe). Array CGH showed: arr[GRCh37]8p23.3p21.3(125733_22400607)×3. It identified a terminal duplication, a 22.3 Mb copy number gain of chromosome 8p23.3-p21.3, between 125,733 and 22,400,607. In this case, there is a de novo duplication of a large chromosomal segment, which was translocated to chromosome 4q. Our report provides additional data regarding neuropsychiatric features in chromosome 8p duplication. The phenotypic consequences in our patient allow clinical-cytogenetic correlations and may also reveal candidate genes for the phenotypic features.

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Section: Discussionmentioning

confidence: 99%

De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review

et al. 2020

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“…In addition, in Shi et al case series, the probands presented normal intellectual development and only mild delay in speech and language skills (Shi et al, 2021; Glancy et al, 2008). Autism spectrum disorders, behavioral and phychiatric abnormalities have been also frequently reported (Shi et al, 2021;Firsh et al, 2011;Dong et al, 2015). Concerning brain structure malformations, agenesis of the corpus callosum and Dandy-Walker malformation have been reported (Puvabanditsin et al, 2018).…”

Section: Discussion and Review Of The Literature 18p Deletion Syndromementioning

confidence: 98%

Prenatal Diagnosis of 18p Deletion and 8p Trisomy Syndrome: Case Report and Review of Literature

Papamichail,

Eleftheriades,

Manolakos

et al. 2023

Preprint

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18p deletion syndrome constitutes one of the most frequent autosomal terminal deletion syndromes, affecting one in 50,000 live births. The syndrome has un-specific clinical features which vary significantly between patients and may overlap with other genetic conditions. Its prenatal description is extremely rare as the fetal phenotype is often not present during pregnancy. Trisomy 8p Syndrome is characterized by heterogenous phenotype, with the most frequent components to be cardiac malformation, developmental and intellectual delay. Its prenatal diagnosis is very rare due to the unspecific sonographic features of the affected fetuses. We present a very rare case of a fetus with multiple anomalies diagnosed during the second trimester whose genomic analysis revealed a 18p Deletion and 8p trisomy Syndrome. This is the first case where this combination of DNA mutations has been described prenatally and the second case in general. The presentation of this case, as well as the detailed review of all described cases, aim to expand the existing knowledge regarding this rare condition facilitating its diagnosis in the future.

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“…The ndings also imply that high SH2D4A mRNA expression may be used as an independent prognostic factor to help GBM patients have a better clinical outcome. Bioinformatic techniques were used exclusively on public databases (TCGA and CGGA) to analyze and con rm the association between SH2D4A expression and prognosis, and our study will carry out additional in vivo and in vitro experiments to gradually strengthen the evidence for the biological impact of SH2D4A [17].…”

Section: Discussionmentioning

confidence: 99%

Bioinformatics analysis of SH2D4A in Glioblastoma Multiforme to evaluate immune features and predict prognosis

Yang

Sun

et al. 2023

Preprint

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Background: Glioblastoma multiforme (GBM) is the most common and aggressive primary brain tumor in adults. The predictive role of SH2D4A has been shown to be closely related to various cancers progression,but there is no comprehensive analysis of the clinical significance in glioblastoma. Hence, this study aimed to explore the relationship between the prognosis of GBM and SH2D4A expression. Methods: The expression of SH2D4A in GBM was analyzed using TIMER2.0 and GEPIA, and validated by qRT-PCR experiments. The CGGA database analyzed the differential expression of SH2D4A in glioma and evaluated the impact of SH2D4A on the survival of glioma patients.LinkedOmics database and GeneMANIA database were studied for SH2D4A co-expression network. A lasso regression model and nomogram were constructed to assess the prognosis of GBM. TCGA database was used to do a GSEA to find functional differences. The relationship between SH2D4A expression and tumor-infiltrating immune cells was analyzed using xCELL, the CIBERSORT algorithm and the TIMER database. Results: In GBM patients, we found that the expression of SH2D4A was upregulated, and the elevated expression of SH2D4A was strongly associated with the grade of the tumor. High SH2D4A expression was found to be a significant independent predictor of poor overall survival (OS) in GBM patients by survival curve analysis and multivariate cox regression analysis. GSEA revealed that SH2D4A was mainly enriched in extracellular matrix tissues, and the expression level of SH2D4A was inversely correlated with the level of infiltration of CD8+T cells, CD4+T cells, B cells, neutrophils and macrophages in GBM, but was positively correlated with the level of dendritic cell infiltration. Immunoassays suggest that altered SH2D4A expression may affect the immune infiltration of GBM tissues and thus affect the survival outcome of GBM. Conclusion: In addition to being a possible prognostic marker and therapeutic target for GBM, SH2D4A may also accelerate the progression of GBM.

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A Novel 1.0 Mb Duplication of Chromosome 8p22-21.3 in a Patient With Autism Spectrum Disorder

Cited by 7 publications

References 28 publications

De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review

De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review

Prenatal Diagnosis of 18p Deletion and 8p Trisomy Syndrome: Case Report and Review of Literature

Bioinformatics analysis of SH2D4A in Glioblastoma Multiforme to evaluate immune features and predict prognosis

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