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Anaesthesia and orphan disease: management of a case of Nicolaides-Baraitser syndrome undergoing cleft palate surgery
BackgroundNicolaides-Baraitser syndrome (NCBRS) is a rare disease caused by mutations in the SMRCA2 gene, which affects chromatin remodelling and...
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De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
PurposeNontruncating variants in SMARCA2 , encoding a catalytic subunit of SWI/SNF chromatin remodeling complex, cause Nicolaides–Baraitser syndrome...
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New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome
BackgroundNicolaides-Baraitser syndrome (NCBRS) is a neurodevelopmental disorder caused by pathogenic sequence variants in SMARCA2 which encodes the...
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Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea
BackgroundThe switch/sucrose nonfermenting (SWI/SNF) complex is an adenosine triphosphate-dependent chromatin-remodeling complex associated with the...
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Identification of the DNA methylation signature of Mowat-Wilson syndrome
Mowat-Wilson syndrome (MOWS) is a rare congenital disease caused by haploinsufficiency of ZEB2 , encoding a transcription factor required for...
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DNA methylation signatures for chromatinopathies: current challenges and future applications
Pathogenic variants in genes that encode epigenetic regulators are the cause for more than 100 rare neurodevelopmental syndromes also termed...
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A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skip** is associated with Coffin-Siris syndrome
Coffin-Siris syndrome (CSS) is a congenital disorder that is characterized by an absent/hypoplastic fifth distal phalanx, psychomotor developmental...
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BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
Coffin–Siris and Nicolaides–Baraitser syndromes (CSS and NCBRS) are Mendelian disorders caused by mutations in subunits of the BAF chromatin...
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Classic Cornelia de Lange syndrome with variant of unknown significance detected in NIPBL gene mutation: a case report
BackgroundCornelia de Lange syndrome is a relatively uncommon disorder associated with multiple congenital anomalies/mental retardation of unknown...
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Coffin-Siris syndrome and epilepsy
Coffin-Siris syndrome is a rare genetic disorder defined by the presence of particular facial traits, congenital malformations, intellectual...
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Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/ıntellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings
BackgroundChromosomal microarray analysis is an essential tool for copy number variants detection in patients with unexplained developmental...
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Ring Chromosome 9
Ring chromosome 9 (RC9) is a rare structural chromosome abnormality. Karyoty**, fluorescence in situ hybridization (FISH), chromosome microarray...
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Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin–Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing
BackgroundCoffin–Siris syndrome (CSS) is a multiple malformation syndrome characterized by intellectual disability associated with coarse facial...
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Chromatinopathies: insight in clinical aspects and underlying epigenetic changes
Chromatinopathies (CPs), a group of rare inborn defects characterized by chromatin state imbalance, have evolved from initially resembling Cornelia...
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Context-specific functions of chromatin remodellers in development and disease
Chromatin remodellers were once thought to be highly redundant and nonspecific in their actions. However, recent human genetic studies demonstrate...
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De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India
The contribution of de novo variants as a cause of intellectual disability (ID) is well established in several cohorts reported from the developed...
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Genetics of autism spectrum disorders and future direction
Autism spectrum disorders (ASDs) have been increasing in prevalence. ASD is a complex human genetic disorder with high heredity and involves...
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OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype
Biallelic pathogenic variants of OTUD6B have recently been described to cause intellectual disability (ID) with seizures. Here, we report the...
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Structure of human chromatin-remodelling PBAF complex bound to a nucleosome
DNA wraps around the histone octamer to form nucleosomes
1 , the repeating unit of chromatin, which create barriers for accessing genetic information....