Categoría: Enfermedades Raras
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Case Report: a novel PNPLA2 homozygous frameshift variant causing severe neutral lipid storage disease with myopathy (NLSDM) in a Moroccan patient
Neutral lipid storage disease with myopathy (NLSDM) is an ultra-rare autosomal recessive lipid metabolism disorder caused by PNPLA2 variants, leading to defective adipose triglyceride lipase (ATGL) function and pathological triglyceride accumulation in…
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Eight-year follow-up of phenotypic progression in a Chinese XLRP pedigree with a novel RP2 gene mutation
BackgroundThis study characterizes a Chinese X-linked retinitis pigmentosa (XLRP) pedigree harboring a pathogenic variant of the RP2 gene and presents the findings from 8-years follow-up with the aim of exploring the genotypic and phenotypic spectra.Me…
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Episignature leads to diagnosis and reclassification of DYRK1A variant in a child with syndromic neurodevelopmental disorder: a case report
BackgroundNeurodevelopmental disorders (NDDs) are genetically heterogeneous, and standard genomic testing frequently yields variants of uncertain significance (VUS) or misses cryptic structural variants. Episignature analysis, which detects disorder sp…
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Case Report: Two siblings with a novel homozygous SLC18A2 variant causing parkinsonism-dystonia-2: a case series from Saudi Arabia
BackgroundMonoamine neurotransmitter disorders are rare, early-onset neurological conditions that frequently mimic cerebral palsy or epileptic encephalopathies, resulting in diagnostic delay. Parkinsonism-dystonia-2 (PKDYS2), caused by biallelic varian…
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Case report: Whole-exome sequencing reveals a novel variant in a patient with epilepsy presenting with fever
Epilepsy is a prevalent neurological disorder characterized by recurrent seizures and significant impacts on quality of life. This case report describes a 2-year-old male patient presenting with epilepsy associated with fever, in whom whole-exome seque…
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Precision diagnosis of GABRA1-associated encephalopathies and epilepsy: optimizing variants classification and molecular subregional effects
BackgroundGABRA1 variants are associated with a broad spectrum of epileptic phenotypes ranging from mild idiopathic generalized epilepsy to severe developmental and epileptic encephalopathy (DEE). To date, the majority of the identified GABRA1 variants…
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An integrative genetic and transcriptomic study reveals a causal link and candidate biomarkers between tuberculosis and asthma
IntroductionTuberculosis, caused by Mycobacterium tuberculosis, mainly affects the lungs, while asthma is a common chronic respiratory condition often linked with other health issues. Research on the connection between these two diseases is scarce, and…
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Multi-omics mendelian randomization integrating GWAS and eQTL data revealed potential drug target for irritable bowel syndrome
IntroductionIrritable bowel syndrome (IBS) is a common gastrointestinal disorder mainly affecting the young and female with limited therapeutic options, necessitating the identification of novel drug targets. This study aimed to identify and prioritize…
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MYBPC1-associated congenital myopathy with tremor: further delineation of the clinical and pathological phenotype in the first Italian case
The MYBPC1 gene, mapping to chromosome 12q23.2, encodes the slow myosin binding protein-C (sMyBP-C), a sarcomeric accessory protein, expressed mainly in slow skeletal muscle fibers, that aids in the regulation of actomyosin cross-bridges and provides t…
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Clinical characterization and molecular analysis of X-linked juvenile retinoschisis in a northern Chinese cohort
PurposeThis study aims to explore the clinical features and genetic findings associated with X-linked juvenile retinoschisis (XLRS) in affected patients.MethodsThis study included 16 patients with XLRS from 13 unrelated families between 2016 and 2024. …