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Coffin-Siris syndrome and epilepsy.
Curcio MR, Ferranti S, Lotti F, Grosso S. Curcio MR, et al. Neurol Sci. 2021 Feb;42(2):727-729. doi: 10.1007/s10072-020-04782-y. Epub 2020 Oct 2. Neurol Sci. 2021. PMID: 33006724
Coffin-Siris syndrome is a rare genetic disorder defined by the presence of particular facial traits, congenital malformations, intellectual disability, and speech impairment. Epilepsy in Coffin-Siris syndrome has only occasionally been r …
Coffin-Siris syndrome is a rare genetic disorder defined by the presence of particular facial traits, congenital malfor …
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, W… See abstract for full author list ➔ van der Sluijs PJ, et al. Genet Med. 2019 Jun;21(6):1295-1307. doi: 10.1038/s41436-018-0330-z. Epub 2018 Nov 8. Genet Med. 2019. PMID: 30349098 Free PMC article.
Prenatal diagnosis of Coffin-Siris syndrome: What are the fetal features?
Yu QX, Jing XY, Lin XM, Zhen L, Li DZ. Yu QX, et al. Prenat Diagn. 2022 Nov;42(12):1488-1492. doi: 10.1002/pd.6213. Epub 2022 Jul 18. Prenat Diagn. 2022. PMID: 35801292
OBJECTIVE: 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. ...
OBJECTIVE: To present both our center's and previously reported experience of prenatal diagnosis of Coffin-Siris syndrome …
Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4.
Liu M, Wan L, Wang C, Yuan H, Peng Y, Wan N, Tang Z, Yuan X, Chen D, Long Z, Shi Y, Qiu R, Tang B, Jiang H, Chen Z. Liu M, et al. Genes Genomics. 2022 Sep;44(9):1061-1070. doi: 10.1007/s13258-022-01231-2. Epub 2022 Mar 30. Genes Genomics. 2022. PMID: 35353340
BACKGROUND: Coffin-Siris syndrome (CSS) is a rare congenital syndrome characterized by developmental delay, intellectual disability, microcephaly, coarse face and hypoplastic nail of the fifth digits. ...
BACKGROUND: Coffin-Siris syndrome (CSS) is a rare congenital syndrome characterized by developmental delay, intellectua …
A boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1B.
Park H, Kim MS, Kim J, Jang JH, Choi JM, Lee SM, Cho SY, Jin DK. Park H, et al. Neuro Endocrinol Lett. 2021 Jan;41(6):285-289. Neuro Endocrinol Lett. 2021. PMID: 33714239
Coffin-Siris syndrome (OMIM #135900) is an autosomal dominant inherited disorder, characterized by dysmorphic features, congenital anomalies, and developmental delay. ...Targeted gene panel sequencing identified a novel heterozygous frameshift mutation c.2147 …
Coffin-Siris syndrome (OMIM #135900) is an autosomal dominant inherited disorder, characterized by dysmorphic features, …
Epilepsy in Coffin-Siris syndrome: A report from the international CSS registry and review of the literature.
Ciliberto M, Skjei K, Vasko A, Schrier Vergano S. Ciliberto M, et al. Am J Med Genet A. 2023 Jan;191(1):22-28. doi: 10.1002/ajmg.a.62979. Epub 2022 Sep 30. Am J Med Genet A. 2023. PMID: 36177969 Review.
Coffin-Siris syndrome (CSS, MIM135900) is a rare multiple congenital anomaly syndrome caused by pathogenic variants in the BAF complex; up to 28% of patients have previously been reported to have seizures, however, a comprehensive review of epilepsy has not b …
Coffin-Siris syndrome (CSS, MIM135900) is a rare multiple congenital anomaly syndrome caused by pathogenic variants in …
A newborn with coffin-siris syndrome.
Cui L, Jin X. Cui L, et al. J Pak Med Assoc. 2023 Apr;73(4):896-900. doi: 10.47391/JPMA.5157. J Pak Med Assoc. 2023. PMID: 37052010 Free article.
Coffin-Siris syndrome (CSS) is a rare congenital genetic syndrome, a multisystem disease related to congenital abnormalities, that manifests with abnormal features, causes repeated infections and is associated with developmental delays. ...
Coffin-Siris syndrome (CSS) is a rare congenital genetic syndrome, a multisystem disease related to congenital abnormal …
Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia.
Gofin Y, Zhao X, Gerard A, Scaglia F, Wangler MF, Schrier Vergano SA, Scott DA. Gofin Y, et al. Am J Med Genet A. 2022 Sep;188(9):2718-2723. doi: 10.1002/ajmg.a.62889. Epub 2022 Jul 7. Am J Med Genet A. 2022. PMID: 35796094 Free PMC article. Review.
Coffin-Siris syndrome (CSS) is an autosomal dominant neurodevelopmental syndrome that can present with a variety of structural birth defects. ...
Coffin-Siris syndrome (CSS) is an autosomal dominant neurodevelopmental syndrome that can present with a variety of str …
Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease.
Keskinen S, Paakkola T, Mattila M, Hietala M, Koillinen H, Laine J, Haanpää MK. Keskinen S, et al. Pediatr Dev Pathol. 2024 Mar-Apr;27(2):181-186. doi: 10.1177/10935266231210155. Epub 2023 Nov 19. Pediatr Dev Pathol. 2024. PMID: 37981638 Free PMC article.
Coffin-Siris syndrome is caused by pathogenic variants in 12 different genes including SMARCB1 and ARID1A. Pathogenic SMARCB1 gene variants cause Coffin-Siris syndrome 3 whereas pathogenic ARID1A gene variants cause Coffin-Siris …
Coffin-Siris syndrome is caused by pathogenic variants in 12 different genes including SMARCB1 and ARID1A. Pathogenic S …
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.
Campeau PM, Hennekam RC; DOORS syndrome collaborative group. Campeau PM, et al. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):327-32. doi: 10.1002/ajmg.c.31412. Epub 2014 Aug 28. Am J Med Genet C Semin Med Genet. 2014. PMID: 25169651
Subsequent whole exome sequencing in the cohort showed the same de novoSMARCB1 mutation (c.1130G>A), known to cause Coffin-Siris syndrome, in two patients. Distinguishing features include retinal anomalies, Dandy-Walker malformation, scoliosis, rocker bott …
Subsequent whole exome sequencing in the cohort showed the same de novoSMARCB1 mutation (c.1130G>A), known to cause Coffin-Siri …
95 results