Coffin-Siris syndrome is a rare disorder, which can be difficult to recognize. A broad spectrum of nonspecific clinical features is associated with Coffin-Siris syndrome, and the expression of these features is diverse. We describe two cases with Coffin-Siris syndrome with mutations in the ARID1A gene, with dissimilar presentation and clinical course.
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| http://dx.doi.org/10.1002/ccr3.6598 | DOI Listing |
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Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.
Clin Genet
December 2024
Imagine Institute, Paris, France.
Diagnostic wandering and delayed management are major issues in rare diseases. Here, we report a new Next-Generation Phenotyping (NGP) model for diagnosing Coffin Siris syndrome (CSS) on clinical photographs among controls and distinguish the different genotypes. This retrospective and prospective study, conducted from 1998 to 2023, included frontal and lateral pictures of confirmed CSS.
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Genet Med Open
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Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Purpose: is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with -related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families.
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A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma.
Acta Biochim Biophys Sin (Shanghai)
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Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics, Medical Genetics Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou 450000, China.
Article Synopsis
- The text discusses a gene that encodes a key part of the SWI/SNF chromatin remodeling complex, important for gene expression regulation, linked to Coffin-Siris syndrome type 3 (CSS3).
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- The case report details a 7-year-old boy with Coffin-Siris syndrome (CSS) who exhibits bilateral macular dysplasia without accompanying pigmentary retinopathy.
- His medical history includes various developmental and anatomical issues, and genetic testing confirmed a variant linked to CSS and an uncertain variant in the CNGB1 gene.
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