Categoría: Frontiers in Genetics
-
A transcriptomic atlas at bulk and single-cell levels identifies novel transcriptional and splicing regulators of ECM homeostasis in osteoarthritis
Osteoarthritis (OA) is a common chronic degenerative joint disease. Chondrocytes undergo dynamic changes during the pathogenesis of OA, and the destruction of the extracellular matrix (ECM) and its homeostatic disruption are hallmarks of OA. This study…
-
Early onset Arboleda-Tham syndrome due to KAT6A variants: Case report
BackgroundArboleda-Tham syndrome (ARTHS), caused by likely pathogenic or pathogenic variants in the KAT6A gene, is characterized by developmental delay, distinctive facial dysmorphic features, and congenital cardiac anomalies. ARTHS warrants considerat…
-
Optical genome mapping uncovers clinically relevant structural variants in congenital heart disease with heterotaxy
IntroductionThe genetic factors underlying congenital heart disease and heterotaxy (CHD/HTX) are complex, including copy number variants, loss-of-function mutations, and missense variants, many of which can be detected by high-throughput sequencing. Th…
-
Type 1 Bartter syndrome presenting as primary diabetes insipidus: a rare Case Report with 8-year follow-up
Type 1 Bartter syndrome (BS), a rare autosomal recessive salt-losing tubulopathy, classically presents with hyponatremia, hypochloremia, hypokalemic alkalosis, and hyperreninemic hyperaldosteronism. We report a male patient with the atypical presentati…
-
Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocation
Chromosomes 3 and 8 harbor genes essential for neurodevelopment, skeletal formation, and metabolic regulation. We report a case of two half-siblings with neurodevelopmental delay and intellectual disability who inherited a derivative chromosome 3 from …
-
BAG3-related myofibrillar myopathy: focus on its cardiac involvement
Myofibrillar myopathy is a cause of rare and severe pediatric cardiomyopathies. Few descriptions of patients carrying the rare p. Pro209Leu variant in BAG3 and presenting with myofibrillar myopathy are reported in the literature. Most reports originate…
-
Application of trio-based whole-exome sequencing in fetal ultrasound anomalies: a single-center retrospective study of 454 cases
This study assessed the diagnostic effectiveness of trio-WES compared to CMA in fetuses with ultrasound anomalies and explored optimal prenatal testing strategies. A retrospective review included 454 fetuses who underwent trio-WES and/or CMA between 20…