Categoría: Original Research
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BAG3-related myofibrillar myopathy: focus on its cardiac involvement
Myofibrillar myopathy is a cause of rare and severe pediatric cardiomyopathies. Few descriptions of patients carrying the rare p. Pro209Leu variant in BAG3 and presenting with myofibrillar myopathy are reported in the literature. Most reports originate…
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Application of trio-based whole-exome sequencing in fetal ultrasound anomalies: a single-center retrospective study of 454 cases
This study assessed the diagnostic effectiveness of trio-WES compared to CMA in fetuses with ultrasound anomalies and explored optimal prenatal testing strategies. A retrospective review included 454 fetuses who underwent trio-WES and/or CMA between 20…
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FTO rs9939609 and rs17817449 polymorphisms contribute to metabolic syndrome risk by increasing triglyceride and glucose levels
Background and AimsThe polymorphisms in fat mass and obesity-associated gene (FTO) have been implicated in metabolic dysregulation. This study aimed to investigate the associations between the FTO rs9939609 and rs17817449 polymorphisms and MetS risk, a…
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Potential marker genes for psoriasis revealed based on single-cell sequencing and Mendelian randomization analysis
BackgroundPsoriasis is a chronic immune-mediated skin disorder characterized by excessive keratinocyte proliferation and localized inflammation. A comprehensive understanding of its molecular mechanisms is crucial for improving disease management and d…
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Phenotype and genetic variation analysis of primary congenital lymphedema caused by FLT4 gene mutations in a fetus
IntroductionThe purpose of this retrospective study was to investigate the imaging phenotype and genetic variation of three fetuses with FLT4 gene mutations in three families.MethodUltrasound images of the three affected fetuses were collected; fetal s…
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Novel variant in PNPLA6 gene causes Oliver-McFarlane syndrome in a Chinese family: 13 years follow-up
IntroductionOliver-McFarlane syndrome (OMCS) is a rare autosomal recessive disorder characterized by trichomegaly, severe chorioretinal dystrophy, and multiple pituitary hormone deficiencies. Its marked genetic and clinical heterogeneity presents signi…
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Computational-experimental strategy identifies Co-upregulated biomarkers linking coronary heart disease and type 2 diabetes pathogenesis
BackgroundCoronary heart disease (CHD) and type 2 diabetes (T2D) represent a significant global comorbidity burden, with shared yet incompletely understood molecular mechanisms. This study aimed to identify shared diagnostic biomarkers and elucidate co…
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Germline activating sequence variations in RASopathy spectrum genes: genotype–phenotype correlation in a North Indian cohort
BackgroundRASopathies represent a group of genetically heterogeneous developmental disorders caused by germline variants in genes regulating the RAS/MAPK signalling pathway. These syndromes share overlapping clinical features, complicating diagnosis. D…
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Mechanistic insights into NFIX frameshift mutations in Malan syndrome: proteasomal degradation-mediated haploinsufficiency
ObjectiveTo investigated the pathogenic mechanism of NFIX frameshift mutations in Malan syndrome.MethodsReviewed the clinical diagnosis and treatment processes of the Malan syndrome proband, analyzing the relationship between NFIX frameshift mutation g…
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Precision genomic profiling in Gaucher disease: insights from atypical presentations
BackgroundGaucher disease (GD) is characterized by significant phenotypic heterogeneity, even among patients with identical GBA1 genotypes, suggesting the role of genetic and/or epigenetic modifiers. The enzymatic defect and pathological accumulation o…