Publications by authors named "A Renieri"
Purpose: is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with -related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families.
Methods: Data on patients aged 18+ years with -related disorder were collected through an online questionnaire completed by clinicians and parents.
CDKL5 deficiency disorder (CDD) is a rare neurodevelopmental syndrome caused by mutations in the X-linked CDKL5 gene. Hundreds of pathogenic variants have been described, associated with a significant phenotypic heterogeneity observed among patients. To date, different knockout mouse models have been generated.
View Article and Find Full Text PDFAlport syndrome is a rare genetic kidney disease caused by variants in the COL4A3/A4/A5 genes. It's characterised by progressive kidney failure, though therapies targeting Renin-Angiotensin System can delay its progression. Additionally, extrarenal manifestations may sometimes coexist.
View Article and Find Full Text PDFArticle Synopsis
- - The study examines how secondary genetic variants can influence the clinical features of individuals with primary disease-causing variants, suggesting that these modifiers play a significant role in disease expression.
- - Specifically focusing on the 16p12.1 deletion, researchers identified various rare and common variants that predisposed individuals to specific developmental issues, such as neurological defects and microcephaly.
- - By analyzing data from different cohorts, the findings indicate that the effects of primary and secondary variants on phenotype vary depending on the specific primary variant involved, highlighting the need for personalized approaches in treatment.