SETBP1 and Schinzel-Giedion Syndrome
- DOI:
- 10.1093/med/9780199934522.003.0154
Schinzel-Giedion syndrome (SGS) is a rare multiple congenital malformation complex characterized by distinctive facial features, multiple congenital anomalies (including skeletal, genitourinary and cardiac malformations), severe intellectual disability and a high prevalence of tumors, especially neuroepithelial neoplasia. Most affected individuals die during infancy mainly because of respiratory failure. As for the causative gene of SGS, de novo germline mutations have been identified in the SETBP1 gene, which has recently been reported to be somatically mutated in a wide variety of myeloid malignancies. Affecting the identical hot spot amino acids, these mutations are thought to result in gain-of-function, being responsible for the pathogenesis of SGS and myeloid malignancies.
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