WebJun 23, 2024 · Background. Coffin-Siris Syndrome (CSS, OMIM 135900) is a multiple congenital anomaly syndrome. Current studies have proved that the disease is caused by mutations in human BRG- or HRBM-associated factor (BAF) pathway ().Within this family of genes, pathogenic variants have been found in ARID1B (the most common), ARID1A, … WebNormal Function The SMARCA4 gene provides instructions for making a protein called BRG1, which forms one piece (subunit) of several different protein groupings called SWI/SNF protein complexes. SWI/SNF complexes regulate gene activity (expression) by a process known as chromatin remodeling.

NM_003072.5(SMARCA4):c.4232G>A (p.Arg1411Gln) AND Coffin-Siris syndrome

WebCoffin–Siris Syndrome (CSS), first described in 1970 by Dr Coffin and Dr Siris, is a rare genetic disorder that causes developmental delays and absent fifth finger and toe … WebFeb 2, 2024 · Tsurusaki et al. (2014) applied whole-exome sequencing to 92 patients meeting the diagnostic criteria for Coffin-Siris syndrome and identified de novo SOX11 mutations in 2 unrelated female patients. Both patients showed dysmorphic facial features, microcephaly, growth deficiency, hypoplastic fifth toenails, and mild intellectual disability. has a molecular weight

NM_003072.5(SMARCA4):c.2275-3C>A AND Coffin-Siris syndrome

WebApr 4, 2013 · Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. WebCoffin-Siris syndrome (CSS; OMIM #135900) is a rare, multisystem syndrome caused by pathogenic variants in genes encoding the BRG-1 associated factors complex (BAF). … WebNM_003072.5(SMARCA4):c.4232G>A (p.Arg1411Gln) AND Coffin-Siris syndrome Clinical significance: Uncertain significance (Last evaluated: Jun 14, 2016) Review status: 1 star out of maximum of 4 stars has a motor sealed inside a dome