Categoría: Frontiers in Genetics
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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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Case Report: Identification and functional characterization of a novel heterozygous splice-donor (c.647+1G>A) site mutation in the SPTB gene that causes hereditary spherocytosis with hemolytic anemia
ObjectiveHereditary spherocytosis (HS) is an inherited disorder characterized by spherical erythrocytes and abnormalities of several erythrocyte membrane proteins with extreme genotypic and phenotypic heterogeneity. HS patients were clinically diagnose…
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Familial Xq27.1q28 duplication arising from a maternal interarm forward insertion of the X chromosome: a case report
ObjectiveThis study investigates a rare case of Xq27.1q28 duplication arising from a maternal interarm forward insertion of the X chromosome, focusing on prenatal diagnosis, family analysis, and genetic counseling for a pregnant woman with repeated adv…
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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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Case Report: Compound heterozygous CEP152 c.3346-5T>C variant and chr15 deletion causing recurrent MCPH–SCKS in a Chinese pregnant woman across two consecutive pregnancies
BackgroundPrimary autosomal recessive microcephaly and Seckel syndrome spectrum (MCPH–SCKS) disorders are a group of autosomal recessive conditions characterized by severe growth retardation and neurodevelopmental impairment. CEP152 variants are establ…
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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…