Categoría: Enfermedades Raras
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Evaluation of the contribution of trio-exome sequencing in selected prenatal indications
ObjectiveThis study is an example of the contribution of exome sequencing (ES) in selected prenatal indications, while illustrating the complexity of interpreting prenatal genetic testing. Therefore, one of the aims of this study was to better describe…
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High prevalence of Hb Q-Thailand not in cis with the -α4.2 deletion: genotypes, phenotypes, and implications in the cenxi population of southern China
ObjectivesHb Q-Thailand, a common hemoglobin variation in Southeast Asia, has historically been associated with the -α4.2 deletion. However, in the Cenxi population of southern China, this variant is frequently detected without the -α4.2 deletion. This…
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Genetic determinants of age-related macular degeneration in Middle Eastern populations: a systematic review
BackgroundAge-related macular degeneration (AMD) is a leading cause of vision loss, with genetic factors playing a key role in disease susceptibility and progression. While extensive genetic research is being conducted, the genetic architecture of AMD …
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21 novel pathogenic variants identified in a cohort of 77 Chinese families with osteogenesis imperfecta
ObjectiveOsteogenesis imperfecta (OI) is a group of connective tissue disorders with significantly clinical and genetic heterogeneity, which is characterized by low bone mineral density, recurrent fractures and skeletal deformities. This study aimed to…
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Clinical outcomes of preimplantation genetic testing for structural rearrangements in couples with chromosomal inversions: a retrospective analysis
Chromosomal inversion is one of the common types of chromosomal structural rearrangements. For couples with chromosomal inversions, the appropriate recommendations for preimplantation genetic testing (PGT) remain a subject of ongoing debate. This study…
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Decoding thalassemia and sickle cell disease: advances in molecular technologies for comprehensive variant detection
Thalassemia and sickle cell disease are inherited hemoglobinopathies caused by pathogenic variants in the globin genes and represent a major global health burden. Despite major advances in screening and diagnostics, challenges persist due to extensive …
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Polydactyly and syndactyly in a Chinese family with Floating-Harbor syndrome: an expansion of the clinical phenotype
Floating-Harbor syndrome (FLHS) is a rare neurodevelopmental and skeletal disorder caused by truncating variants in exons 33 and 34 of the SRCAP gene. It is characterized by distinctive facial features, delayed bone age, short stature, and moderate int…
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Case report: co-inheritance of familial lecithin-cholesterol acyltransferase deficiency and α0-Thalassemia
BackgroundFamilial lecithin-cholesterol acyltransferase (LCAT) deficiency and α0-thalassemia are rare autosomal recessive disorders. Although both disease-causing genes reside on chromosome 16, their physical distance typically results in independent i…
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Identification and functional analysis of NAD+ metabolism-related gene NT5E in pulmonary hypertension
BackgroundPulmonary hypertension (PH) is a severe progressive disease characterised by elevated pulmonary vascular resistance and right ventricular hypertrophy. Increasing evidence has highlighted the vital role of nicotinamide adenine dinucleotide (NA…
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Multi-omics analysis to identify the dynamic changes of immune cells and marker genes in renal fibrosis
IntroductionRenal fibrosis is a common pathological feature of chronic kidney disease and a major driver of progression to end-stage renal disease, but its molecular mechanisms remain incompletely understood.MethodsWe integrated multi-omics datasets fr…