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.

Table 2 Main clinical findings for special AT-rich sequence binding protein 2-associated syndrome (according to literature[22] and https://satb2gene.com)

Signs for SAS		Reported frequency (%)
Demographics	Gender (M:F)	3:2
	Age < 4 yr	31
	Age 4-10 yr	37
	Age 10-18 yr	19
	Adults	13
Severe speech anomalies	DD/ID	100
	Speech delay	95
Abnormalities of the palate	Cleft palate, high-arched palate, and bifid uvula	76
	Micrognathia	42
Teeth anomalies	Abnormal upper central incisors	36
	Dental crowding	36
	Hypodontia	16
	Delayed primary dentition	6
	Diastema	4
Behavioral issues with or without bone or brain MRI anomalies	Feeding difficulties	39
	Growth restriction	34
	Enlarged ventricles	12
	Agenesis of corpus callosum	5
Age of onset before 2 yr	—	—

SAS: Special AT-rich sequence binding protein 2-associated syndrome; MRI: Magnetic resonance imaging; DD/ID: Developmental delay/intellectual disability; M: Male; F: Female.