Publications by authors named "P Prontera"
The etiology of neurodevelopmental disorders and epilepsy is very heterogeneous and partly still unknown, and the research of causative genes related to these diseases is still in progress. In 2020, pathogenic variants of the gene were associated with Beck-Fahrner syndrome, which is characterized by neurodevelopmental delay, intellectual and learning disabilities of variable degree, growth abnormalities, hypotonia and seizures. Variants of have been described having both an autosomal dominant with a milder phenotype and an autosomal recessive pattern.
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- - 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.
Given the crucial role of the personalized management and treatment of hearing loss (HL), etiological investigations are performed early on, and genetic analysis significantly contributes to the determination of most syndromic and nonsyndromic HL cases. Knowing hundreds of syndromic associations with HL, little comprehensive data about HL in genomic disorders due to microdeletion or microduplications of contiguous genes is available. Together with the description of a new patient with a novel 3.
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