Publications by authors named "L Larizza"
Article Synopsis
- - Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that impacts physical development and cognitive abilities, primarily caused by mutations in genes linked to the cohesin complex, though many cases remain undiagnosed.
- - The study presents a family case where multiple members have an intragenic duplication in the AFF2 gene, identified using advanced genomic technologies like high-resolution array Comparative Genomic Hybridization and next-generation sequencing.
- - The research shows a clear correlation between the AFF2 gene mutation and the CdLS phenotype, with the affected individuals displaying significant changes in gene expression and X-inactivation patterns compared to an unaffected relative, suggesting that AFF2 should be included in molecular diagnosis for CdLS.
Article Synopsis
- Silver-Russell Syndrome (SRS) is a disorder that leads to growth failure, characteristic physical features, and feeding issues, with significant genetic causes remaining unclear in many cases.
- The study aimed to assess the genetic variants in undiagnosed SRS patients and determine if (epi)genetic patients show distinct characteristics compared to genetic patients.
- Findings revealed that only 9.1% of patients had identifiable pathogenic variants, emphasized body asymmetry as a key trait in (epi)genetic SRS, and recommended including IGF1R sequencing in the diagnostic process for SRS.
Background/objectives: Identifying novel variants in very rare disease genes can be challenging when patients exhibit a complex phenotype that expands the one described, and we provide such an example here. A few terminal truncating variants in cause spastic paraplegia (SP), intellectual disability (ID), nystagmus, and obesity (SINO, MIM #617296). Prompted by the result of next-generation sequencing on a patient referred for SP associated with complex brain dysmorphisms, we reviewed the phenotype of SINO patients focusing on their brain malformations, mainly described in prenatal age and first years of life, and tried to understand if the predicted effect of the mutant kidins220 may have caused them.
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- * It explores the relationship between nuclear pore complex (NPC) components and caretakers in genome instability syndromes, focusing on how defects in these caretakers affect NPC architecture in Werner syndrome and Hereditary Fibrosing Poikiloderma.
- * The review highlights the connection between damage sensors from both syndromes and the NPC, emphasizing their role in maintaining telomere length and restoring DNA damage at the nuclear periphery.