Sotos syndrome and the added value of genetic workup in epilepsy surgery
Sign Up to like & getrecommendations! Published in 2021 at "Epilepsia Open"
DOI: 10.1002/epi4.12530
Abstract: To the editors, We read with great interest the study by Fortin et al1 describing the phenotypic spectrum of seizures and epilepsy in 49 patients with Sotos syndrome based on a structured clinical interview and… read more here.
Keywords: epilepsy; epilepsy surgery; case; sotos syndrome ... See more keywords
Parent-Reported Communication Abilities of Children with Sotos Syndrome: Evidence from the Children’s Communication Checklist-2
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Autism and Developmental Disorders"
DOI: 10.1007/s10803-018-3842-0
Abstract: Sotos syndrome is a congenital overgrowth syndrome associated with intellectual disability. This study investigated communicative abilities of children with Sotos syndrome (n = 31), using the Children’s Communication Checklist, second edition. A cross-syndrome approach was used to… read more here.
Keywords: communication; children sotos; children communication; sotos syndrome ... See more keywords
Subdural Hemorrhage as an Early Presentation in a Case of Sotos Syndrome
Sign Up to like & getrecommendations! Published in 2023 at "Neuropediatrics"
DOI: 10.1055/a-2052-8750
Abstract: Abstract Subdural hemorrhages (SDHs) in the pediatric population are associated with a high mortality and morbidity and may present in the context of abusive head trauma. Diagnostic investigations for such cases often include evaluation for… read more here.
Keywords: hemorrhage early; presentation case; early presentation; case sotos ... See more keywords
Spinal Deformity in Sotos Syndrome: First Results of Growth-Friendly Spine Surgery.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Pediatric Orthopaedics"
DOI: 10.1097/bpo.0000000000001554
Abstract: BACKGROUND Sotos syndrome (SS), or cerebral gigantism, describes children with macrocephaly, craniofacial abnormalities, general overgrowth, ligamentous laxity, developmental delay, and neurological disabilities. Fewer than 500 cases have been reported since Sotos and colleagues described the… read more here.
Keywords: growth friendly; growth; surgery; results growth ... See more keywords
RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.827802
Abstract: Background Sotos syndrome is an autosomal dominant disorder characterized by overgrowth, macrocephaly, distinctive facial features and learning disabilities. Haploinsufficiency of the nuclear receptor SET domain-containing protein 1 (NSD1) gene located on chromosome 5q35 is the… read more here.
Keywords: splice; nsd1 gene; variant; analysis ... See more keywords
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13112163
Abstract: Background: Inactivating NSD1 mutations causing Sotos syndrome have been previously associated with a specific genome-wide DNA methylation (DNAm) pattern. Sotos syndrome is characterized by phenotypic overlap with other overgrowth syndromes, and a definite diagnosis might… read more here.
Keywords: genome wide; uncertainty; dna methylation; nsd1 variants ... See more keywords
Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14020295
Abstract: Sotos syndrome is a rare genetic disorder caused by haploinsufficiency of the NSD1 (nuclear receptor binding SET domain containing protein 1) gene. No clinical diagnostic consensus criteria are published yet, and molecular analysis reduces the… read more here.
Keywords: nsd1 gene; molecular analysis; analysis reclassification; gene ... See more keywords
NSD1 Mutations in Sotos Syndrome Induce Differential Expression of Long Noncoding RNAs, miR646 and Genes Controlling the G2/M Checkpoint
Sign Up to like & getrecommendations! Published in 2022 at "Life"
DOI: 10.3390/life12070988
Abstract: An increasing amount of evidence indicates the critical role of the NSD1 gene in Sotos syndrome (SoS), a rare genetic disease, and in tumors. Molecular mechanisms affected by NSD1 mutations are largely uncharacterized. In order… read more here.
Keywords: noncoding rnas; expression; nsd1 mutations; change benjamini ... See more keywords