Publications by authors named "Rachele Cantone"
Article Synopsis
- - Deleterious variants in collagen genes are a primary cause of hereditary connective tissue disorders (HCTD), and there's a need for better adaptations of existing classification criteria by ACMG/AMP.
- - A multidisciplinary team developed tailored ACMG/AMP specifications for key collagen genes, effectively classifying pathogenic variants, particularly focusing on null alleles and certain glycine substitutions.
- - The new criteria aim to clarify the interpretation of genetic variants in HCTD, helping reduce ambiguities and improving the clinical application of molecular testing by fostering better collaboration between labs and clinicians.
To date only five patients with 8p23.2-pter microdeletions manifesting a mild-to-moderate cognitive impairment and/or developmental delay, dysmorphisms and neurobehavioral issues were reported. The smallest microdeletion described by Wu in 2010 suggested a critical region (CR) of 2.
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- Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited disorder often linked to genetic variants in specific genes, necessitating advanced genetic testing for accurate diagnosis and treatment.
- The study proposes a next-generation sequencing (NGS) strategy to analyze ADPKD, which successfully identified causative genetic variants in 61.3% of 212 patients tested, revealing significant genetic diversity and previously unreported variants.
- Additionally, the NGS approach uncovered alternative diagnoses for some patients and highlighted important genotype-phenotype correlations, indicating that certain mutations can lead to more severe disease outcomes.