Categoría: Frontiers in Genetics
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rs9789446 genotype as susceptibility biomarkers for congenital hypothyroidism based on population and family validation
IntroductionCongenital hypothyroidism (CH) is a metabolic disorder in newborns due to insufficient synthesis, abnormal secretion, or defective action of thyroid hormones. While newborn screening enables early detection, the precise etiology remains elu…
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Case Report: UMOD gene mutation and phenotypic overlap with REN in autosomal dominant tubulointerstitial kidney disease
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare monogenic kidney disorder characterized by progressive tubular atrophy and interstitial fibrosis. It is primarily associated with pathogenic variants in genes such as UMOD (uromodul…
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Expanding the spectrum of NUS1-related progressive myoclonic epilepsy: a novel variant and exploratory use of metformin
IntroductionProgressive myoclonic epilepsies (PME) are rare genetic disorders typically presenting with myoclonus, seizures, and cognitive decline. While several genes are associated with PME, the NUS1 gene has recently emerged as a potential cause. We…
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LRRC56 deficiency cause motile ciliopathies in humans and mice
IntroductionMotile ciliopathies represent a group of disorders caused by impaired motility of cilia and flagella, resulting in clinical manifestations such as laterality defects, asthenospermia, chronic respiratory infections, and hydrocephalus. Althou…
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Neonatal-onset familial hemophagocytic lymphohistiocytosis: a case report with genetic confirmation of PRF1 mutations
Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, inherited immune-dysregulation syndrome that can present in the neonatal period and progress rapidly without timely recognition. We report a full-term female who developed abdominal distensio…
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A transcriptomic atlas at bulk and single-cell levels identifies novel transcriptional and splicing regulators of ECM homeostasis in osteoarthritis
Osteoarthritis (OA) is a common chronic degenerative joint disease. Chondrocytes undergo dynamic changes during the pathogenesis of OA, and the destruction of the extracellular matrix (ECM) and its homeostatic disruption are hallmarks of OA. This study…
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Early onset Arboleda-Tham syndrome due to KAT6A variants: Case report
BackgroundArboleda-Tham syndrome (ARTHS), caused by likely pathogenic or pathogenic variants in the KAT6A gene, is characterized by developmental delay, distinctive facial dysmorphic features, and congenital cardiac anomalies. ARTHS warrants considerat…
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Optical genome mapping uncovers clinically relevant structural variants in congenital heart disease with heterotaxy
IntroductionThe genetic factors underlying congenital heart disease and heterotaxy (CHD/HTX) are complex, including copy number variants, loss-of-function mutations, and missense variants, many of which can be detected by high-throughput sequencing. Th…