In a female child with Schinzel-Giedion syndrome (269150) who died at 9.25 years of age, Hoischen et al. (2010) identified a de novo 2608G-A transition in the SETBP1 gene, resulting in a gly870-to-ser (G870S) substitution at a highly conserved residue. The mutation was not found in the parents or in 188 control chromosomes.
In 2 unrelated Thai male infants who fulfilled the diagnostic criteria for Schinzel-Giedion syndrome proposed by Lehman et al. (2008), Suphapeetiporn et al. (2011) identified heterozygosity for the G870S mutation in the SETBP1 gene. The mutation was not found in 100 control chromosomes of Thai ethnicity. The patients displayed some features not previously reported in the disorder, including very short epiglottis, vocal cord paralysis, radioulnar synostosis, and possible hypothyroidism.
