Categoría: Enfermedades Raras
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Identification and functional analysis of NAD+ metabolism-related gene NT5E in pulmonary hypertension
BackgroundPulmonary hypertension (PH) is a severe progressive disease characterised by elevated pulmonary vascular resistance and right ventricular hypertrophy. Increasing evidence has highlighted the vital role of nicotinamide adenine dinucleotide (NA…
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Multi-omics analysis to identify the dynamic changes of immune cells and marker genes in renal fibrosis
IntroductionRenal fibrosis is a common pathological feature of chronic kidney disease and a major driver of progression to end-stage renal disease, but its molecular mechanisms remain incompletely understood.MethodsWe integrated multi-omics datasets fr…
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Functional inactivation of MDR3 caused by a homozygous ABCB4 missense variant leading to liver failure
Progressive familial intrahepatic cholestasis (PFIC) is a rare hereditary liver disorder that is caused by defective hepatobiliary transport. Variants in ATP binding cassette 4 ( ), encoding phosphatidylcholine floppase MDR3, are a frequent cause; howe…
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Genetic association of LOC100130476 rs80213143 with susceptibility and renal involvement in systemic lupus erythematosus
BackgroundsSystemic lupus erythematosus (SLE) is an autoimmune disease with multi-organ involvement, and lupus nephritis (LN) is a severe manifestation. Long non-coding RNAs (lncRNAs) have been implicated in regulating immune responses in autoimmune di…
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TTN variants in pediatric cardiomyopathy: a retrospective cohort study
BackgroundTitin (TTN) variants have been implicated in various types of cardiomyopathy. Allelic variant heterogeneity results in variable clinical phenotypes, which remains a major barrier for effective disease management. We aim to investigate the rel…
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Expanding the clinical and mutational spectrum of hereditary spastic paraplegia type 4 in a cohort of patients from central China
BackgroundMutations in the SPAST gene cause autosomal dominant hereditary spastic paraplegia (HSP) type 4 (SPG4), which is the most common type of HSP with variable frequencies in different ethnic backgrounds. The clinical and genetic characteristics o…
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Case Report: Prenatal genetic analysis of a rare fetus with 45, X/46, X, dic r (Y; Y)/46, X, r(Y) karyotype
ObjectiveTo perform a genetic analysis of a rare complex chimeric fetus with a 45,X/46,X,dic r(Y; Y)/46,X,r(Y) karyotype, indicated by NIPT as having sex chromosome abnormalities but with normal ultrasound findings. This study underscores the critical …
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Case Report: Novel pathogenic variant in autosomal recessive WNT10A-related odonto-onycho-dermal dysplasia
Odonto-onycho-dermal dysplasia (OODD) is a rare, autosomal recessive disorder caused by pathogenic variants in the WNT10A gene, which plays a crucial role in ectodermal tissue development, including teeth, hair, nails, and skin. We describe an 18-year-…
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Developmental and epileptic encephalopathies with germline PIGA variants in five Chinese children: a case report and literature review
BackgroundDiseases associated with the germline PIGA gene include multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) and neurodevelopmental disorder with epilepsy. The clinical heterogeneity of PIGA-related diseases is extensive, so i…
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Genetic aetiology of global developmental delay and intellectual disability in Africa: a scoping review
BackgroundThe genetic aetiology of global developmental delay (GDD) and intellectual disability (ID) in Africa is poorly understood. This review synthesises the available information on this topic.MethodsOriginal articles published in the English langu…