A Novel Nonsense Mutation of ABCA8 in a Han-Chinese Family With ASCVD Leads to the Reduction of HDL-c Levels

Wang, Chenyu; Chen, Yaqin; Jin, Jie‐Yuan; Du, Ran; Fan, Liang‐Liang; Xiang, Rong

doi:10.3389/fgene.2020.00755

Cited by 12 publications

(7 citation statements)

References 26 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Whole exome sequencing services were provided by the Novogene Bioinformatics Institute (Beijing, China). Exomes were captured by Agilent SureSelect Human All Exon V6 kits, and next-generation sequencing was conducted with an Illumina HiSeq X-10 system as we previous described (Yu et al, 2017 ; Wang et al, 2020 ).…”

Section: Case Presentationmentioning

confidence: 99%

Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A

Luo

Deng

et al. 2021

Front. Neurosci.

Self Cite

View full text Add to dashboard Cite

Chorea-Acanthocytosis (ChAc), a rare autosomal recessive inherited neurological disorder, originated from variants in Vacuolar Protein Sorting 13 homolog A (VPS13A) gene. The main symptoms of ChAc contain hyperkinetic movements, seizures, cognitive impairment, neuropsychiatric symptoms, elevated serum biochemical indicators, and acanthocytes detection in peripheral blood smear. Recently, researchers found that epilepsy may be a presenting and prominent symptom of ChAc. Here, we enrolled a consanguineous family with epilepsy and non-coordinated movement. Whole exome sequencing was employed to explore the genetic lesion of the family. After data filtering, co-separation analysis was performed by Sanger sequencing and bioinformatics analysis, the homozygous nonsense variant (NM_033305.2: c.8282C>G, p.S2761X) of VPS13A were identified which could be genetic factor of the patient. No other meaningful mutations were detected. This mutation (p.S2761X) led to a truncated protein in exon 60 of the VPS13A gene, was simultaneously absent in our 200 local control participants. The homozygous mutation (NM_033305.2: c.8282C>G, p.S2761X) of VPS13A may be the first time be identified in ChAc patient with epilepsy. Our study assisted to the diagnosis of ChAc in this patient and contributed to the genetic diagnosis and counseling of families with ChAc presented as epilepsy. Moreover, we further indicated that epilepsy was a crucial phenotype in ChAc patients caused by VPS13A mutations.

show abstract

Section: Case Presentationmentioning

confidence: 99%

Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A

Luo

Deng

et al. 2021

Front. Neurosci.

Self Cite

View full text Add to dashboard Cite

show abstract

“…Only two active transporters were dysregulated. Both Abcd2 and Abca8 are ATP Binding Cassette family members relevant to lipid metabolism 79 , 80 . While Very low density lipoprotein receptor (Vldlr) mediates lipid uptake and accumulation 81 , 82 .…”

Section: Discussionmentioning

confidence: 99%

Microarray analysis identifies coding and non-coding RNA markers of liver injury in whole body irradiated mice

Aryankalayil

Bylicky

Martello

et al. 2023

Sci Rep

View full text Add to dashboard Cite

Radiation injury from medical, accidental, or intentional sources can induce acute and long-term hepatic dysregulation, fibrosis, and cancer. This long-term hepatic dysregulation decreases quality of life and may lead to death. Our goal in this study is to determine acute changes in biological pathways and discover potential RNA biomarkers predictive of radiation injury. We performed whole transcriptome microarray analysis of mouse liver tissue (C57BL/6 J) 48 h after whole-body irradiation with 1, 2, 4, 8, and 12 Gray to identify significant expression changes in mRNAs, lncRNAs, and miRNAs, We also validated changes in specific RNAs through qRT-PCR. We used Ingenuity Pathway Analysis (IPA) to identify pathways associated with gene expression changes. We observed significant dysregulation of multiple mRNAs across all doses. In contrast, miRNA dysregulation was observed upwards of 2 Gray. The most significantly upregulated mRNAs function as tumor suppressors: Cdkn1a, Phlda3, and Eda2r. The most significantly downregulated mRNAs were involved in hemoglobin synthesis, inflammation, and mitochondrial function including multiple members of Hbb and Hba. The most significantly upregulated miRNA included: miR-34a-5p, miR-3102-5p, and miR-3960, while miR-342-3p, miR-142a-3p, and miR-223-3p were most significantly downregulated. IPA predicted activation of cell cycle checkpoint control pathways and inhibition of pathways relevant to inflammation and erythropoietin. Clarifying expression of mRNA, miRNA and lncRNA at a short time point (48 h) offers insight into potential biomarkers, including radiation markers shared across organs and animal models. This information, once validated in human models, can aid in development of bio-dosimetry biomarkers, and furthers our understanding of acute pathway dysregulation.

show abstract

“…The Berry Genomics (Beijing, China) provided the main part of WES. All of the exomes were captured by means of SureSelect Human All Exon V6 kits (Agilent, Santa Clara, CA, USA) and were sequenced on the Illumina HiSeq X‐10 platform 12 …”

Section: Methodsmentioning

confidence: 99%

CSRP3, p.Arg122*, is responsible for hypertrophic cardiomyopathy in a Chinese family

Huang

Chen

Jin

et al. 2021

The Journal of Gene Medicine

Self Cite

View full text Add to dashboard Cite

Background Hypertrophic cardiomyopathy (HCM) is a hereditary disease manifested by a thickened ventricular wall. Cysteine and glycine‐rich protein 3 (CSRP3), the gene encoding muscle LIM protein, is important for initiating hypertrophic gene expression. The mutation of CSRP3 causes dilated cardiomyopathy or HCM. Methods In the present study, we enrolled a Chinese family with HCM across three generations. Whole‐exome sequencing (WES) was performed in the proband to detect the candidate genes of the family. Sanger sequencing was performed for mutational analysis and confirmation of cosegregation. Results Through histopathological and imaging examinations, an obvious left ventricular hypertrophy was found in the proband. After WES data filtering, bioinformatic prediction and co‐segregation analysis, a nonsense mutation (NM_003476.5:c.364C>T; NP_003467.1:p.Arg122*) of CSRP3 was identified in this family. This variant was predicted to be disease‐causing and resulted in a truncated protein. Conclusions This is the first HCM family case of CSRP3 (p.Arg122*) variation in Asia. The finding here not only contributes to the genetic diagnosis and counseling of the family, but also provides a new case with detailed phenotypes that may be caused by the CSRP3 variant.

show abstract

A Novel Nonsense Mutation of ABCA8 in a Han-Chinese Family With ASCVD Leads to the Reduction of HDL-c Levels

Cited by 12 publications

References 26 publications

Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A

Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A

Microarray analysis identifies coding and non-coding RNA markers of liver injury in whole body irradiated mice

CSRP3, p.Arg122*, is responsible for hypertrophic cardiomyopathy in a Chinese family

Contact Info

Product

Resources

About