Categoría: Original Research
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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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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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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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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…
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Genetic association of LOC100130476 rs80213143 with susceptibility and renal involvement in systemic lupus erythematosus
BackgroundsSystemic lupus erythematosus (SLE) is an autoimmune disease with multi-organ involvement, and lupus nephritis (LN) is a severe manifestation. Long non-coding RNAs (lncRNAs) have been implicated in regulating immune responses in autoimmune di…
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TTN variants in pediatric cardiomyopathy: a retrospective cohort study
BackgroundTitin (TTN) variants have been implicated in various types of cardiomyopathy. Allelic variant heterogeneity results in variable clinical phenotypes, which remains a major barrier for effective disease management. We aim to investigate the rel…
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Expanding the clinical and mutational spectrum of hereditary spastic paraplegia type 4 in a cohort of patients from central China
BackgroundMutations in the SPAST gene cause autosomal dominant hereditary spastic paraplegia (HSP) type 4 (SPG4), which is the most common type of HSP with variable frequencies in different ethnic backgrounds. The clinical and genetic characteristics o…