Categoría: Original Research
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Clinical and genetic features of hereditary transthyretin amyloidosis with polyneuropathy in China: insights from case analysis and literature review
BackgroundHereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a progressive multisystem disorder caused by pathogenic TTR variants. Aim of this study is to delineate the clinical and genetic feature of ATTRv-PN in China and to evalua…
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Delineating the trajectory of adult chronic diseases and healthcare use for 22q11.2 microdeletion in a general population context
BackgroundChildren with complex genetic diseases increasingly survive to adulthood, but adult health is poorly understood. Using a genetics-first approach we investigated the incidence and accrual of cardiovascular and other outcomes in people with mol…
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Genetic polymorphisms of the CDC27 gene are associated with susceptibility and outcomes of non-syndromic congenital heart disease: a bi-ethnic case–control study in Chinese populations
BackgroundCell division cycle 27 (CDC27) gene expression is closely associated with the cell cycle and has been implicated in the pathogenesis of congenital heart disease (CHD) in animal models. This study focuses on investigating whether single-nucleo…
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Identification and functional analysis of a novel TRAPPC2 intronic variant in a four-generation Chinese pedigree with SEDT
BackgroundPathogenic variants in the trafficking protein particle complex subunit 2 (TRAPPC2) gene are known to cause X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT), a rare hereditary cause of childhood short stature. Genetic diagnosis is …
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Identification and functional characterization of a novel pathogenic COL1A1 splicing variant in a Chinese family with osteogenesis imperfecta
BackgroundOsteogenesis imperfecta (OI) is a hereditary disorder primarily caused by mutations in COL1A1 or COL1A2, leading to bone fragility and deformities. Although numerous pathogenic variants have been identified, novel mutations in specific popula…
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Clinical and genetic characteristics of rare congenital adrenal hyperplasia: a retrospective analysis in a Chinese population
ObjectiveRare subtypes of congenital adrenal hyperplasia (CAH) often present with heterogeneous and overlapping clinical features, leading to substantial diagnostic delays and misclassification. This study aimed to characterize the clinical, biochemica…
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Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilities
IntroductionComprehensive care for autistic youth with severe symptoms and language impairment includes genetic testing to find underlying causes. Identifying a genetic diagnosis helps determine prognosis, guide treatment, assess recurrence risk, and c…
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An intronic micro-deletion impacts the transcription and translation of PKD1 gene
Polycystin-1 (PC1), encoded by the PKD1 gene, forms a complex with polycystin-2 (PKD2; 173910) that regulates multiple signaling pathways to maintain normal renal tubular structure and function. Mutations in the PKD1 gene are the primary cause of type …
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Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain
Elective Genomic Testing (EGT) can identify individuals at risk for actionable conditions that would not come to clinical attention following current testing guidelines. We describe the results of a checkup unit from a leading Spanish University hospit…
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Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohort
IntroductionHypophosphatasia (HPP) is a rare inherited metabolic disease caused by mutations in the ALPL gene. The disease is heterogeneous, complicating its diagnosis and delaying optimal management, leading to severe or lethal outcomes such as failur…