Categoría: Original Research
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Clinical characterization and in silico structural analysis of microtubule-related gene variants in eleven patients
ObjectiveThis study aimed to analyze associations of Microtubules (MTs) mutations with nervous system phenotypes, summarize mutation characteristics of genes including TUBA1A, TUBB2A, TUBB4A, and TUBGCP6, explore clinical phenotypic diversity and molec…
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The prevalence of Duchenne/Becker muscular dystrophy in the Russian Federation
IntroductionDuchenne and Becker muscular dystrophies (DMD/BMD) are among the most common inherited neuromuscular disorders worldwide. The reported prevalence of DMD is 7.1 cases per 100,000 adult males and 2.8 cases per 100,000 individuals in the gener…
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Inherited metabolic diseases mimicking hereditary spastic paraplegia: a cohort of ten Egyptian patients
BackgroundInborn errors of metabolism (IEMs) are a rare and often underrecognized cause of spastic paraplegia in children and adults.Owing to their high energy demands and long axons, motor neurons and the corticospinal tracts are particularly vulnerab…
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Non-invasive adjunctive diagnostic models incorporating high-frequency ultrasound and shear wave elastography for pediatric Duchenne muscular dystrophy
BackgroundThis study aimed to comprehensively characterize skeletal muscle properties in pediatric patients with Duchenne muscular dystrophy (DMD) using high-frequency ultrasound (HFUS) and shear-wave elastography (SWE), and to construct and compare di…
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A P2RX2 exon-2 complex indel disrupts splicing and reduces P2X2 output: implications for DFNA41 and variable expressivity
BackgroundP2RX2 encodes the ATP-gated P2X2 receptor associated with autosomal dominant non-syndromic hearing loss 41 (DFNA41). DFNA41 is characterized by progressive sensorineural hearing loss and an increased susceptibility to acoustic trauma. However…
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Single-cell transcriptome analysis of muscle and blood tissues from a patient with a rare homozygous ANO5 variant causing limb-girdle muscular dystrophy type R12
BackgroundLimb-girdle muscular dystrophy type R12 (LGMD R12) is a recessive genetic myopathy, typically caused by pathogenic variants in anoctamin-5 (ANO5), which encodes a multipass membrane protein localized to the sarcolemma and sarcoplasmic reticul…
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Genotype distribution and identification of rare variants in α/β-thalassemia in chengdu: including the first report of HBA1:c.300+48C > G
ObjectiveThalassemia is among the most common inherited diseases worldwide. We aimed to analyze the genotype and frequency distribution of thalassemia in a general hospital in Chengdu and provide a reference for genetic counseling and prenatal diagnosi…
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Cell-type-resolved colocalisation prioritises KCNIP2 as a candidate epilepsy drug-target detectable at inhibitory-neuron but not bulk-tissue resolution: a Mendelian randomisation and colocalisation study
Most antiseizure medicines act on a limited set of neuronal targets. Approximately a third of patients have treatment-resistant epilepsy, creating a need for mechanistically distinct drug targets. Human genetics can prioritise them, but epilepsy target…
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The COL4A3 c.3418+1G>T variant causes exon 39 skipping in minigene assays: functional and exploratory structural analyses
BackgroundCanonical splice-site variants are an important cause of Alport syndrome, but the transcript consequences of many heterozygous COL4A3 variants remain experimentally unverified. We characterized COL4A3 c.3418 + 1G>T in a 38-year-old woman with…
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Whole-exome sequencing reveals genetic etiology and pregnancy outcomes in fetuses with ultrasound-detected abnormalities at a tertiary center
Despite advances in prenatal diagnostics, the genetic causes underlying fetal ultrasound abnormalities remain poorly understood, with a significant proportion of cases lacking definitive molecular diagnoses. Invasive prenatal testing was performed in 1…