Categoría: Enfermedades Raras
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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…
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CFTR gene variant detection in moroccan individuals via nanopore long-read sequencing
IntroductionCystic fibrosis (CF) is an autosomal recessive disease resulting from pathogenic CF transmembrane conductance regulator (CFTR) pathogenic gene variants. While CF’s frequency varies among ethnicities, its epidemiology, clinical manifestation…
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ORMDL3: from an asthma susceptibility gene to multi-disease associations
The ORMDL3 protein, encoded by the ORMDL3 gene, functions as a transmembrane protein in the endoplasmic reticulum. Initially identified through its genetic link to asthma susceptibility, ORMDL3 plays a key role in regulating sphingolipid metabolism by …