SATB2-associated syndrome caused by a novel SATB2 mutation in a Chinese boy: A case report and literature review

Table 1 Functional evaluation of the c.687C>A (p.Y229X) mutation in special AT-rich sequence binding protein 2 according to the guidelines from American College of Medical Genetics and Genomics[20]

	Weight for pathopoiesis	Pathogenic criterion for the mutation
Functional evaluation	PVS1 (very strong)	Null variant in SATB2 where loss of function is a known mechanism of the disease
	PM2 (moderate)	Absence in population database
	PP3 (supporting)	Multiple lines of computational evidence support a deleterious effect on the gene/gene production
		PolyPhen-2	SIFT	MutationTaster
		Probably damaging	Damaging	Disease causing
Final evaluation	Pathogenic

SATB2: Special AT-rich sequence binding protein 2.