Publications by authors named "C Meossi"
Article Synopsis
- Turner-type X-linked syndromic intellectual developmental disorder (MRXST) is linked to variants in the HUWE1 gene and manifests through global developmental delays, intellectual disabilities, and unique facial features.
- This study examined two families with MRXST, identifying genetic variations in HUWE1 through whole-exome sequencing and noting different inheritance patterns.
- The research highlights consistent clinical features across cases, emphasizing the role of the HUWE1 gene in development, and proposes a monitoring protocol to improve diagnosis and management for affected individuals.
: The pathogenetic role of 15q11.2 Copy Number Variations (CNVs) remains contentious in the scientific community, as microdeletions and microduplications in this region are linked to neurodevelopmental disorders with variable expressivity. This study aims to explore the diagnostic utility of Exome Sequencing (ES) in a cohort of pediatric patients with 15q11.
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- Silver-Russell Syndrome (SRS) is a rare condition that causes babies to grow slower and have unique facial features, with about 1 in 30,000 to 100,000 births affected.
- This study looked at four patients who seemed to have SRS but actually had a different syndrome after genetic testing, showing that SRS can be confused with other conditions.
- It's important to carefully check all symptoms and do proper tests to make sure patients get the right treatment and support they need.
Article Synopsis
- This study investigates three chromatinopathies (Wiedemann-Steiner, Kleefstra, Coffin-Siris syndromes) known for similar symptoms like intellectual disability and growth issues, to explore their potential metabolic connections.
- Eleven patients participated in the study, where researchers conducted physical exams and assessed resting energy expenditure, finding no significant differences between these conditions and healthy controls.
- The findings highlight the importance of epigenetic factors in growth and neurodevelopment, suggesting that certain clinical features should be monitored in these syndromes, while emphasizing the need for further research into energy metabolism.
(MIM #602075) is a relatively new gene reported only in recent years in association with neurodevelopmental disorders characterized by variable facial dysmorphisms, global developmental delay, poor or absent speech, altered electroencephalogram (EEG), and brain abnormalities on imaging. To date about thirty variants in forty-four patients/children have been described, with a heterogeneous spectrum of clinical manifestations. In the present study, we describe a new patient affected by mild intellectual disability, speech disorder, and non-specific abnormalities on EEG and neuroimaging.
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