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Background: The STAG1 gene encodes a component of the cohesin complex, involved in chromosome segregation and DNA repair. Variants in genes of the cohesin complex determine clinical conditions characterized by facial dysmorphisms, upper limb anomalies, intellectual disability, and other neurological deficits. However, to date, the STAG1-related clinical phenotype has been poorly investigated (around 20 cases reported). Methods and Results: We report, for the first time, two twins affected by a syndromic neurodevelopmental disorder associated with a de novo variant in the STAG1 gene. Although both the twins showed a neurodevelopmental delay, one of them showed a more severe phenotype with greater behavioral problems, speech defects and limb apraxia. CGH array showed a 15q13.3 microduplication, inherited from an unaffected mother. Conclusions: We found different degrees of behavioral, speech and cognitive impairment in two twins affected by a neurodevelopmental disorder associated with a STAG1 variant. These findings highlight the variability of the STAG1-associated phenotype or a probable role of associated variants (like the discovered 15q13.3 microduplication) in modulating the clinical features. [ABSTRACT FROM AUTHOR]

The article discusses the relevance of the E756del common variant in the PIEZO1 gene for haemolytic anaemia and hepatic iron overload, particularly in patients with dehydrated hereditary stomatocytosis (DHS). The variant is prevalent in the African-descent population and has been associated with increased red blood cell dehydration, mild anaemia, alterations in iron balance, and protection against malaria. The study analyzed a cohort of patients with hereditary erythrocyte and iron metabolism defects, highlighting the impact of the E756del variant on clinical parameters and iron metabolism. The findings suggest that the E756del variant functions as a polymorphism with mild to moderate effects on haemolytic anaemia and hepatic iron overload, emphasizing the importance of monitoring iron balance in affected individuals. [Extracted from the article]