Categoría: Frontiers in Genetics
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Freely available genomic datasets for atrial fibrillation research: current resources and analytical pipeline
Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia, characterized by clinical and genetic heterogeneity. Increasing use of genomics and other omics approaches has driven reliance on publicly available AF datasets to advance biolog…
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Integrating rare and common variation in epilepsy genetics: from genetic architecture to penetrance and clinical expressivity
Epilepsy genetics has often been interpreted through a useful but simplified dichotomous framework in which severe epilepsies, particularly developmental and epileptic encephalopathies, are attributed mainly to rare, high-effect variants, whereas more …
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Pedigree Case Report of adult-onset phenotypically heterogeneous Krabbe disease
BackgroundKrabbe disease is a rare autosomal recessive leukodystrophy, typically considered a fatal disorder of infancy. Adult-onset forms are uncommon and diagnostically challenging due to their nonspecific presentations.Case presentationWe report a c…
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Case Report: novel mutations in SMARCA4 cause Coffin-Siris syndrome type 4 with autism spectrum disorder without visual impairment in one patient
Coffin-Siris syndrome type 4 (CSS4; OMIM 614609) is a rare autosomal dominant disorder caused by variants in SMARCA4, encoding the BRG1 ATPase subunit of the BAF chromatin-remodeling complex. Although classically characterized by intellectual disabilit…
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Identification of a novel and a recurrent CDC45 variant in a Chinese family with Meier-Gorlin syndrome 7 and a literature review
IntroductionMeier-Gorlin syndrome 7 (MGORS7) is a rare autosomal recessive disorder characterized by primordial dwarfism, craniosynostosis, and patellar aplasia, caused by pathogenic variants of CDC45. Here, we report a Chinese patient presenting with …
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Amyotrophic lateral sclerosis -plus patient with an intermediate-length CACNA1A allele: a Case Report
Amyotrophic lateral sclerosis (ALS), the most common type of motor neuron disease, primarily manifests as progressive weakness, atrophy, fasciculations, bulbar palsy, and pyramidal tract symptoms. Accumulating evidence indicates that the pathological s…
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Reclassification of the GRIA3 splice-site variant in an X-linked family with intellectual disability and psychiatric symptoms
BackgroundThe GRIA3 gene is located on the X chromosome and encodes a subunit (GluR3) of the a-amino-3- hydroxy-5-methylisoxazole-4-propionic acid receptor (AMPAR). The pathogenic variants of GRIA3 are mostly associated with neurodevelopmental disorder…
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Genetic analysis of Behçet’s disease using whole-exome sequencing and bioinformatics analysis in Korean patients
BackgroundBehçet’s disease (BD) is a rare autoimmune or autoinflammatory disorder characterized by various systemic manifestations, including mucocutaneous, ocular, and musculoskeletal symptoms. The etiology of BD involves a complex interplay between g…
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Rare missense variants in NECTIN1 alter local protein structure and may contribute to non-syndromic cleft lip with or without palate
IntroductionOrofacial cleft is a congenital anomaly influenced by genetic and environmental factors. NECTIN1 encodes an adhesion protein critical for the adherens junctions and has been associated with orofacial clefts. This study aimed to investigate …
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SEPTIN9 R106W in a Chinese family with hereditary neuralgic amyotrophy: phenotypic heterogeneity and rehabilitation in a pediatric case
IntroductionHereditary neuralgic amyotrophy (HNA) is a rare autosomal dominant recurrent focal neuropathy characterized by acute episodes of severe neuropathic pain followed by muscle weakness and atrophy, most commonly affecting the brachial plexus. P…