Categoría: Enfermedades Raras
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Partial trisomy 19p13.3-p13.2 from antenatal diagnosis to 7-year follow-up: case report and literature review
Partial trisomy of the short arm of chromosome 19 (19p) is a rare chromosomal abnormality with significant clinical implications. We report the prenatal diagnosis and 7-year follow-up of a boy with partial trisomy 19p13.3-p13.2 and multiple congenital …
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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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Case Report: A novel deep intronic MFSD8 splice-altering variant causes CLN7 disease through pseudoexon inclusion
Pathogenic deep intronic variants are an underrecognized cause of inherited disorders because they are typically missed by exon-focused sequencing and often require functional validation. We describe a patient with classic CLN7 disease caused by a prev…
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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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Case report: Harel–Yoon syndrome (ATAD3A p.Arg528Trp) with relative cognitive preservation despite severe motor impairment
BackgroundHarel–Yoon syndrome (HAYOS) is a rare neurometabolic disorder caused by pathogenic variants in the ATAD3A gene, a key regulator of mitochondrial dynamics and cellular homeostasis. Although a broad phenotypic spectrum has been described, the r…
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Adult presentation of SLC29A3-related disorder spectrum with marked hypogammaglobulinemia due to a recurrent homozygous pathogenic variant (G437R): a case report
BackgroundSLC29A3-related disorder spectrum encompasses rare autosomal recessive conditions characterized by multisystem involvement, including immunodeficiency, lymphoproliferation, cutaneous findings, endocrine dysfunction, and growth failure. The cl…
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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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Case Report: Prenatal diagnosis and genetic counseling for a homozygous segment spanning chromosome 6q25.3q27 with normal phenotype
BackgroundRuns of Homozygosity (ROH) are long, uninterrupted stretches of the genome in which an individual is homozygous at virtually every assayed variant. Uniparental disomy (UPD) is an epigenetic anomaly in which both copies, or a portion of a pair…