Categoría: Enfermedades Raras
-
Burden of pathogenic variants in genes associated with medically actionable disease in the Slovenian population
IntroductionThe prevalence of pathogenic variants in disease-related genes is population-specific and is of vital importance for the development of national health policies. It is especially important with medically actionable diseases, where early int…
-
The mutational and clinical spectrum of EYS-associated retinitis pigmentosa in an Eastern European and Northern Asian cohort: two recurrent founder alleles
PurposeBiallelic EYS variants are one of the frequent causes of autosomal recessive inherited retinal disease worldwide, yet the EYS mutational landscape of Eastern European and Northern Asian populations has not been systematically described. We chara…
-
A novel frameshift RPL15 gene variant associated with hydrops fetalis and perinatal death
BackgroundThe heterozygous RPL15 gene (OMIM*604174) variants are associated with autosomal dominant Diamond-Blackfan anemia 12 (DBA12, OMIM#615550). Fewer than ten RPL15 variants have been reported to date, and they are commonly associated with hydrops…
-
Case Report: Co-occurrence of Wilson disease and tuberous sclerosis complex in a Chinese patient
BackgroundWilson disease (WD) and tuberous sclerosis complex (TSC) are rare genetic disorders with distinct pathophysiologies. Their co-occurrence has not been previously reported. When atypical clinical features emerge in a patient with an established…
-
A novel homozygous DLGAP5 splice-site variant in a woman with oocyte maturation arrest and recurrent IVF failure: a case report
Oocyte maturation arrest (OMA) is a rare cause of female infertility characterized by impaired oocyte maturation and recurrent failure of assisted reproductive technologies. Recent studies have identified DLGAP5 as a critical regulator of meiotic spind…
-
Cord blood-based neonatal genetic screening for thalassemia in Guiyang, China (2015): a cross-sectional study
BackgroundThis study aims to assess the carrier frequency and molecular spectrum of thalassemia in neonates from Guiyang, China, a multi-ethnic region with historically limited population-level screening data.MethodsThis single-center cross-sectional s…
-
Artificial intelligence for precision gene therapy: emerging technologies, clinical applications, and future directions
Artificial Intelligence (AI) is revolutionizing gene therapy from an empirical and iterative process to a predictive, data-driven and increasingly intelligent therapeutic development approach. This review covers the application of AI extensively throug…
-
Emerging genetic mechanisms of glomerular proteinuria: a podocyte-centered multi-layer network perspective
Podocyte injury is widely recognized as a central driver of glomerular proteinuria and progression to chronic kidney disease. Although proteinuria can originate from multiple components of the glomerular filtration barrier, genetic and experimental stu…
-
Considering microRNAs as measures of extrinsic domains of risk in the context of underlying genetic characteristics: type 2 diabetes as an exemplar
The etiology of most health conditions is complex, arising from a combination of risk factors that include both intrinsic (i.e., genetic characteristics) and extrinsic (e.g., behaviors, the environment, social factors) domains. Until relatively recentl…
-
Genotype-phenotypic correlation in a Chinese patient with isolated lissencephaly sequence caused by 17p13.3p13.2 chromosomal microdeletion: a 6-year follow-up study
BackgroundIsolated lissencephaly sequence (ILS) is a severe neurodevelopmental disorder associated with 17p13.3 microdeletion. This 6-year longitudinal study aimed to systematically characterize physical and neurodevelopmental trajectories of a Chinese…