Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE1, in a patient with Angelman‐like syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.511
Abstract: Patients affected by Angelman syndrome (AS) present severe intellectual disability, lack of speech, ataxia, seizures, abnormal electroencephalography (EEG), and a characteristic behavioral phenotype. Around 10% of patients with a clinical diagnosis of AS (AS‐like) do… read more here.
Keywords: novo splicing; variant coffin; splicing variant; coffin siris ... See more keywords
Prenatal diagnosis of Coffin‐Siris syndrome: What are the fetal features?
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DOI: 10.1002/pd.6213
Abstract: To present both our center's and previously reported experience of prenatal diagnosis of Coffin‐Siris syndrome (CSS) with regard to the laboratory testing and fetal features of this syndrome. read more here.
Keywords: diagnosis; siris syndrome; diagnosis coffin; fetal features ... See more keywords
Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype
Sign Up to like & getrecommendations! Published in 2017 at "Human Genetics"
DOI: 10.1007/s00439-017-1757-z
Abstract: Chromatin remodeling is a complex process shaping the nucleosome landscape, thereby regulating the accessibility of transcription factors to regulatory regions of target genes and ultimately managing gene expression. The SWI/SNF (switch/sucrose nonfermentable) complex remodels the… read more here.
Keywords: coffin siris; mutations individuals; swi snf; gene ... See more keywords
Simple schwannomatosis or an incomplete Coffin-Siris? Report of a particular case
Sign Up to like & getrecommendations! Published in 2019 at "eNeurologicalSci"
DOI: 10.1016/j.ensci.2018.11.021
Abstract: Background Schwannomatosis is a genetic disorder that belongs to NF family. The mutation of SMARCB1 gene has been related to this entity and Coffin-Siris syndrome, as well. We reported a case of a female patient… read more here.
Keywords: case; coffin siris; coffin; siris syndrome ... See more keywords
Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene
Sign Up to like & getrecommendations! Published in 2020 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2020.116819
Abstract: BACKGROUND Pathogenic variants of the ARID1B gene are recognized as the most common cause of Coffin-Siris syndrome (CSS) and also one of the most common causes for intellectual disability (ID). Reported ARID1B variants in association… read more here.
Keywords: report five; coffin siris; syndrome report; arid1b gene ... See more keywords
Maternal transmission of a mild Coffin–Siris syndrome phenotype caused by a SOX11 missense variant
Sign Up to like & getrecommendations! Published in 2021 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-021-00865-2
Abstract: Here we report for the first time on the maternal transmission of mild Coffin–Siris syndrome (CSS) caused by a SOX11 missense variant. We present two sisters with intellectual disability and muscular hypotonia born to non-consanguineous… read more here.
Keywords: maternal transmission; missense variant; coffin siris; mild coffin ... See more keywords
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/s41436-018-0330-z
Abstract: PurposePathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin–Siris patients (ARID1B-CSS) and it… read more here.
Keywords: intellectual disability; coffin siris; css; arid1b css ... See more keywords
Anaplastic Astrocytoma in a Child With Coffin-Siris Syndrome and a Germline SMARCE1 Mutation: A Case Report
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000001361
Abstract: Coffin-Siris syndrome (CSS) is a rare congenital disorder with variable clinical phenotype consisting of developmental delay and characteristic facial features. It is caused by mutations in the chromatin remodeling switch/sucrose nonfermenting complex. Although SWI/SNF genes… read more here.
Keywords: anaplastic astrocytoma; coffin siris; smarce1; smarce1 mutation ... See more keywords
Pigmentation abnormalities in Coffin-Siris syndrome.
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DOI: 10.1111/cge.14356
Abstract: Pigmentary abnormalities in Coffin-Siris Syndrome should be considered as part of the wide phenotypical spectrum of this patients. read more here.
Keywords: siris syndrome; coffin siris; pigmentation abnormalities; abnormalities coffin ... See more keywords
G452(P) A complex case of cystic fibrosis and coffin-siris syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2018-rcpch.441
Abstract: We describe a 4-year-old girl with advanced Cystic Fibrosis (CF) and Coffin-Siris syndrome. Antenatally, there were concerns about Down Syndrome. She was born at term weighing 3388 g. Dysmorphic with micrognathia, broad nasal bridge, (P)iorly rotated… read more here.
Keywords: cystic fibrosis; coffin siris; siris syndrome; fibrosis coffin ... See more keywords
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
Sign Up to like & getrecommendations! Published in 2021 at "BMC Medical Genomics"
DOI: 10.1186/s12920-021-01119-2
Abstract: Background Coffin–Siris syndrome (CSS) is a multiple malformation syndrome characterized by intellectual disability associated with coarse facial features, hirsutism, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. CSS represents a small group… read more here.
Keywords: exome sequencing; cgh whole; coffin siris; siris syndrome ... See more keywords