Publications by authors named "G Vonella"
Somatic mutations of the phosphatase and tensin (PTEN) gene have been frequently detected in many types of human cancer. However, germline mutations can determine multiple hamartoma syndromes and, as more recently ascertained, syndromes clinically characterized by autism associated with macrocephaly. To determine whether germline mutations of PTEN may lead to different phenotypes, we screened all the nine exons of the PTEN gene in 40 patients with neurodevelopmental disorders, with or without features of autism spectrum disorder, associated with macrocephaly.
View Article and Find Full Text PDFObjective: Rett syndrome is a progressive neurological disorder affecting almost exclusively females after age 6 months and characterised by acquired microcephaly, psychomotor retardation, growth failure, purposeless hand movements, autistic-like behaviour and wide-based and stiff legged gait. Leptin and adiponectin, peptides secreted by adipose tissue, are involved in the regulation of body weight and energy expenditure.
Design And Patients: We investigated in patients with Rett syndrome the variations of plasma leptin and adiponectin and their relation over a 2-year period.
Article Synopsis
- Terminal deletions of chromosome 7, particularly in the long arm (7q36.3), are linked to conditions like hypotelorism and holoprosencephaly due to the SHH gene.
- More proximal deletions in the 7q36.1q36.2 region are rarer and may not be detected using standard subtelomeric MLPA analysis.
- A case is presented of a 9-year-old girl with a specific 5.27 Mb deletion in this region, showing unique symptoms such as mental retardation and long QT syndrome linked to the loss of the KCNH2 gene, indicating potential for clinical diagnosis.
Objective: Case study of a CNS impairment lacking in presumptive cause; case presents with a clinical phenotype encompassing multiple differently expressed and combined symptoms, as well as a subtle skin defect.
Materials And Methods: A 6-year-old male with apparently isolated mental delay, speech delay, attention deficit/hyperactivity disorder, epilepsy, and subtle and insignificant skin dyschromias. The patient underwent a systematic evaluation, including clinical history; medical, neurological and ophthalmologic examinations.
Article Synopsis
- The study involved five family members across three generations, including a 35-year-old woman and her two mentally impaired sons.
- The research focused on postaxial polydactyly, which appears to be inherited in an autosomal dominant manner, and presents with notable variations in phenotypic features like syndactyly and mental delays.
- The findings suggest that the observed conditions may relate to a contiguous gene syndrome rather than a single gene mutation, although further proof is needed.