Publications by authors named "John Karl de Dios"
Background: O'Donnell-Luria-Rodan syndrome (ODLURO) is an autosomal-dominant neurodevelopmental disorder caused by pathogenic, mostly truncating variants in . It was first described by O'Donnell-Luria in 2019 in a cohort of 38 patients. Clinical features encompass macrocephaly, mild intellectual disability (ID), autism spectrum disorder (ASD) susceptibility and seizure susceptibility.
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- * CHEDDA is different from another condition called DRPLA and is characterized by notable facial features, global developmental delays, and common issues such as severe feeding difficulties and some physical differences in hands and feet.
- * Our research establishes CHEDDA as a clinical condition linked to mutations in exon 7 of the ATN1 gene and suggests guidelines for diagnosis, monitoring, and early interventions, including the use of neuroimaging for better understanding of prognosis.
The GNE gene encodes the rate-limiting, bifunctional enzyme of sialic acid biosynthesis, uridine diphosphate-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE). Biallelic GNE mutations underlie GNE myopathy, an adult-onset progressive myopathy. GNE myopathy-associated GNE mutations are predominantly missense, resulting in reduced, but not absent, GNE enzyme activities.
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