January 2024
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11 Reads
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1 Citation
Journal of Advanced Research
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January 2024
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11 Reads
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1 Citation
Journal of Advanced Research
May 2023
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19 Reads
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5 Citations
Ageing Research Reviews
PLA2G6-associated neurodegeneration (PLAN) represents a continuum of clinically and genetically heterogeneous neurodegenerative disorders with overlapping features. Usually, it encompasses three autosomal recessive diseases, including infantile neuroaxonal dystrophy or neurodegeneration with brain iron accumulation (NBIA) 2A, atypical neuronal dystrophy with childhood-onset or NBIA2B, and adult-onset dystonia-parkinsonism form named PARK14, and possibly a certain subtype of hereditary spastic paraplegia. PLAN is caused by variants in the phospholipase A2 group VI gene (PLA2G6), which encodes an enzyme involved in membrane homeostasis, signal transduction, mitochondrial dysfunction, and α-synuclein aggregation. In this review, we discuss PLA2G6 gene structure and protein, functional findings, genetic deficiency models, various PLAN disease phenotypes, and study strategies in the future. Our primary aim is to provide an overview of genotype-phenotype correlations of PLAN subtypes and speculate on the role of PLA2G6 in potential mechanisms underlying these conditions.
March 2022
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6 Reads
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1 Citation
Current Medical Science
Objective: Ovarian cancer (OC) is one of the most common and most lethal gynecological malignancies. OC has an age-dependent incidence and occurs more commonly in females older than 50 years old. Most OC patients are diagnosed at an advanced stage and have a poor prognosis. Germline mutations in the BRCA1 DNA repair associated gene (BRCA1) and the BRCA2 DNA repair associated gene (BRCA2) account for 20%-25% of epithelial ovarian cancer (EOC). BRCA1 germline mutations are more common in Chinese EOC patients. Methods: This study reported a three-generation Han-Chinese family containing four EOC patients and a rectal adenocarcinoma patient. Whole-exome sequencing was performed on two EOC patients and an unaffected individual. Variant validation was also performed in all available members by Sanger sequencing. Results: A heterozygous splice site variant, c.4358-2A>G in the BRCA1 gene, was identified. Bioinformatic analysis showed that the variant may change the splicing machinery. Conclusion: The BRCA1 splice site variant, c.4358-2A>G was identified as the likely genetic cause for EOC, and may also be associated with the increased risk of rectal adenocarcinoma in the family. The findings were beneficial for genetic counseling, helpful for cancer prevention in other family members, and may facilitate therapy decision-making in the future to reduce cancer lethality.
December 2021
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77 Reads
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7 Citations
Brugada syndrome (BrS) is a complexly genetically patterned, rare, malignant, life-threatening arrhythmia disorder. It is autosomal dominant in most cases and characterized by identifiable electrocardiographic patterns, recurrent syncope, nocturnal agonal respiration, and other symptoms, including sudden cardiac death. Over the last 2 decades, a great number of variants have been identified in more than 36 pathogenic or susceptibility genes associated with BrS. The present study used the combined method of whole exome sequencing and Sanger sequencing to identify pathogenic variants in two unrelated Han-Chinese patients with clinically suspected BrS. Minigene splicing assay was used to evaluate the effects of the splicing variant. A novel heterozygous splicing variant c.2437-2A>C in the sodium voltage-gated channel alpha subunit 5 gene ( SCN5A ) and a novel heterozygous missense variant c.161A>T [p.(Asp54Val)] in the glycerol-3-phosphate dehydrogenase 1 like gene ( GPD1L ) were identified in these two patients with BrS-1 and possible BrS-2, respectively. Minigene splicing assay indicated the deletion of 15 and 141 nucleotides in exon 16, resulting in critical amino acid deletions. These findings expand the variant spectrum of SCN5A and GPD1L , which can be beneficial to genetic counseling and prenatal diagnosis.
... The absence of neurological abnormalities in the heterozygous parents of the patient is consistent with the autosomal recessive inheritance pattern which has been suggested recently [22]. In addition, a recent review concluded that an incomplete CADASIL phenotype could be caused by these cysteine sparing mutations through altering NOTCH3 signaling activity [41]. It seems that the presence of a single functional NOTCH3 allele may be sufficient to maintain the normal functioning of vascular smooth muscle cells and prevent the development of pathological manifestations. ...
January 2024
Journal of Advanced Research
... Autosomal recessive EOP caused by mutations in the PLA2G6 gene is called PLA2G6-associated Neurodegeneration (PLAN) (2, 3). These include Infantile neuroaxonal dystrophy (INAD), Atypical neuroaxonal dystrophy (ANAD), and EOP (4). In this study, a case of EOP caused by a novel PLA2G6 gene mutation was reported, and previous reports of EOP related to this gene were reviewed. ...
May 2023
Ageing Research Reviews
... At present, only a few GPD1L variants have been identified in patients affected by BrS, sudden infant death syndrome, diabetic dead-in-bed syndrome, cardiac conduction disorder, atrial fibrillation and early repolarisation syndrome, but only 6 of them have been functionally characterized [14,[27][28][29][30][31][32][33][34][35]. Among these, P112L showed a hyperpolarizing shift in steady-state inactivation of sodium currents, P112L, A280V and R189X reduced the expression of GPD1L and/or Nav1.5 proteins, and all mutants were associated with a reduction of sodium current density [14,27,28,32]. ...
December 2021