Categoría: Frontiers in Genetics
-
Case Report: Mild BRIC-like cholestasis despite a gross USP53 deletion—novel findings and literature review
We report a pediatric case of cholestatic liver disease associated with two novel compound heterozygous variants in the USP53 gene: a truncating c.1219A>T (p.Lys407*) variant inherited from the father and a maternally inherited gross deletion involving…
-
Why all MODY variants in transcription factor genes are dominantly inherited
Maturity-onset diabetes of the young (MODY) is an autosomal dominant form of monogenic diabetes, frequently caused by heterozygous loss-of-function variants in transcription factor (TF) genes. Why are MODY variants in TF genes dominantly inherited? Her…
-
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…
-
MAPT mutation-induced behavioral variant frontotemporal dementia in an Asian patient: a multimodal biomarker case report resolving diagnostic challenges with Alzheimer’s disease
BackgroundThe clinical phenotypic overlap between frontotemporal dementia (FTD) and Alzheimer’s disease (AD) frequently leads to misdiagnosis, while biomarkers (e.g., Aβ-PET) and genetic testing provide critical differential diagnostic evidence. Althou…
-
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…
-
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…
-
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…
-
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…
-
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…
-
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…