coffin-siris_syndrome [Neurosurgery Wiki]

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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 are widely implicated in [[tumorigenesis]], only 8 cases of neoplasm have been reported in patients with CSS.

A case of anaplastic astrocytoma (WHO grade III) in an 18-month-old child with [[Coffin-Siris syndrome]] (CSS)  due to a de novo germline missense [[SMARCE1]] mutation. Additional molecular features of the tumor are described as well. The role of missense SMARCE1 mutations in tumor predisposition in children with CSS should be further investigated to better inform genetic counselling
((Lin B, Kesserwan C, Quinn EA, Einhaus SL, Wright KD, Azzato EM, Orr BA,
Upadhyaya SA. Anaplastic Astrocytoma in a Child With Coffin-Siris Syndrome and a 
Germline SMARCE1 Mutation: A Case Report. J Pediatr Hematol Oncol. 2018 Nov 28.
doi: 10.1097/MPH.0000000000001361. [Epub ahead of print] PubMed PMID: 30499906.
)).