Categoría: Enfermedades Raras
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Novel APC promoter 1B variant associated with gastric adenocarcinoma and proximal polyposis of the stomach: a case report
IntroductionGastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare autosomal dominant familial gastric cancer syndrome. GAPPS is caused by pathogenic variant in the regulatory region of APC. This study describes the first Korean…
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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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Case Report: Identification of a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections
BackgroundHeterozygous variants in the ZEB2 gene are known to cause Mowat–Wilson syndrome (MWS). The classical clinical spectrum of MWS includes characteristic facial features, intellectual disability, epilepsy, Hirschsprung disease (HSCR), and various…
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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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POLR3A-related syndrome complicated with cerebral abscesses: a case report and literature review
BackgroundPOLR3A gene-related syndrome is a complex genetic disorder with diverse clinical manifestations. Understanding its characteristics is crucial for diagnosis and management. Previous studies have reported various aspects of this syndrome, yet a…
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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…