Search results for "De Lange Syndrome"
showing 5 items of 5 documents
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder
2020
BackgroundThe regulation of the chromatin state by epigenetic mechanisms plays a central role in gene expression, cell function, and maintenance of cell identity. Hereditary disorders of chromatin regulation are a group of conditions caused by abnormalities of the various components of the epigenetic machinery, namely writers, erasers, readers, and chromatin remodelers. Although neurological dysfunction is almost ubiquitous in these disorders, the constellation of additional features characterizing many of these genes and the emerging clinical overlap among them indicate the existence of a community of syndromes. The introduction of high-throughput next generation sequencing (NGS) methods f…
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
2021
Postzygotic mosaicism (PZM) in NIPBL is a strong source of causality for Cornelia de Lange syndrome (CdLS) that can have major clinical implications. Here, we further delineate the role of somatic mosaicism in CdLS by describing a series of 11 unreported patients with mosaic disease-causing variants in NIPBL and performing a retrospective cohort study from a Spanish CdLS diagnostic center. By reviewing the literature and combining our findings with previously published data, we demonstrate a negative selection against somatic deleterious NIPBL variants in blood. Furthermore, the analysis of all reported cases indicates an unusual high prevalence of mosaicism in CdLS, occurring in 13.1% of p…
Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome
2015
Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (<em>NIPBL</em>, <em>SMC3</em> and <em>SMC1A</em>), are responsible for approximately 50-60% of CdLS cases. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in CdLS. However, the pro…
Neuromuscular disorders and non compaction
2010
Abstract For neurological disorders we consider every possible affection of the central nervous system or neuro-muscular junction, in the presence of complex syndromes as well, such as Cornelia De Lange syndrome or any other. In our experience the incidence of neurological or neuromuscular envolment in patients affected by noncompaction is low. An incidence of comorbidities higher than 20% is not recorded in any centre, in published experiences. Data of the Vienna group could be likely influenced by selection bias (second level centre) or territorial genetic factors, or could depend on higher sensibility of used diagnostic techniques of neurological disease. But, if it was so, in our opinio…
Mealtime behaviour disorders in Cornelia de Lange syndrome
2016
Rationale and objectives: Cornelia de Lange syndrome (CdLS) is a multisystem congenital syndrome at variable expressivity. Children with CdLS can exhibit a range of “autistic-like” behaviours. Only a few studies have investigated the presence of eating "autistic-like" behaviors in individuals with CdLS. The aim of this study is investigating eating disorders and food selectivity among children affected by CdLS compared to autistic spectrum disorder (ASD) and typical developing (TD) children. Materials and methods: 16 children affected by CDLs (10 M, mean age 5.12±1.98 years) were compared to 35 ASD children (20 M, mean age 4.94±1.72 years) and 77 TD children (41 M, mean age 4.78±2.06 years)…