Publications by authors named "M Mucciolo"
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.
Pathogenic, largely truncating variants in the ETS2 repressor factor (ERF) gene, encoding a transcriptional regulator negatively controlling RAS-MAPK signaling, have been associated with syndromic craniosynostosis involving various cranial sutures and Chitayat syndrome, an ultrarare condition with respiratory distress, skeletal anomalies, and facial dysmorphism. Recently, a single patient with craniosynostosis and a phenotype resembling Noonan syndrome (NS), the most common disorder among the RASopathies, was reported to carry a de novo loss-of-function variant in ERF. Here, we clinically profile 26 individuals from 15 unrelated families carrying different germline heterozygous variants in ERF and showing a phenotype reminiscent of NS.
View Article and Find Full Text PDFThe Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.
J Clin Endocrinol Metab
August 2024
Context: In the last decade the Sanger method of DNA sequencing has been replaced by next-generation sequencing (NGS). NGS is valuable in conditions characterized by high genetic heterogeneity such as neonatal diabetes mellitus (NDM).
Objective: To compare results of genetic analysis of patients with NDM and congenital severe insulin resistance (c.