Categoría: Articulos
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Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss
This study reveals that dominant and recessive variants in ATOH1, a key transcription factor for hindbrain and mechanosensory development, cause distinct syndromes. Dominant C-terminal truncating variants induce a recognizable hindbrain malformation, m…
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Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profiling
European Journal of Human Genetics, Published online: 26 January 2026; doi:10.1038/s41431-025-01995-7Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profiling
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Case Report: Novel ADAMTSL2 compound heterozygous mutations in geleophysic dysplasia with bilateral glaucoma and keratoconus-like corneal ectasia
Geleophysic dysplasia represents an exceedingly uncommon autosomal recessive skeletal disorder marked by profound growth restriction, contractures affecting multiple joints, and cardiac valve abnormalities. The molecular foundation involves ADAMTSL2 ge…
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Characterization of Large Genomic Rearrangements in BRCA1 and BRCA2 Genes in a Chinese High-Risk Cohort
Large genomic rearrangements (LGRs) account for at least 10% of the mutations in BRCA1 and 5% of BRCA2 mutations in outbred families with hereditary breast and ovarian cancer. A total of 21 probands with breast cancer who carried BRCA1 or BRCA2 LGRs we…
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Viral load preemptive monitoring in the post-transplant immunocompromised population
Cytomegalovirus (CMV), Epstein-Barr virus (EBV), BK virus, and adenovirus cause significant morbidity and mortality in immunocompromised individuals, especially in those undergoing solid organ and hematopoietic stem cell transplant. Quantitative viral …
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New Updates and Guidelines in T Cell Nomenclature Relevant to Molecular Pathology
Has the rapid evolution of immune profiling outpaced our current T cell nomenclature? Advances in immunologic and cellular profiling methods, particularly high-dimensional flow cytometry, single-cell RNA sequencing, and spatial profiling, have been cri…
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Case Report: Clinical and genetic analysis of a family with hereditary spherocytosis combined with familial chylomicronemia syndrome
ObjectiveThis study was conducted to investigate the clinical and genetic characteristics of a family affected by hereditary spherocytosis (HS) combined with familial chylomicronemia syndrome (FCS), identify the pathogenic cause, and provide a basis fo…
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An intronic micro-deletion impacts the transcription and translation of PKD1 gene
Polycystin-1 (PC1), encoded by the PKD1 gene, forms a complex with polycystin-2 (PKD2; 173910) that regulates multiple signaling pathways to maintain normal renal tubular structure and function. Mutations in the PKD1 gene are the primary cause of type …