Case Report
Copyright ©The Author(s) 2021.
World J Clin Cases. Jul 26, 2021; 9(21): 6081-6090
Published online Jul 26, 2021. doi: 10.12998/wjcc.v9.i21.6081
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 pathopoiesisPathogenic criterion for the mutation
Functional evaluationPVS1 (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
Probably damagingDamagingDisease causing
Final evaluationPathogenic
Table 2 Main clinical findings for special AT-rich sequence binding protein 2-associated syndrome (according to literature[22] and
Signs for SAS
Reported frequency (%)
DemographicsGender (M:F)3:2
Age < 4 yr31
Age 4-10 yr37
Age 10-18 yr19
Severe speech anomaliesDD/ID100
Speech delay95
Abnormalities of the palateCleft palate, high-arched palate, and bifid uvula76
Teeth anomaliesAbnormal upper central incisors36
Dental crowding36
Delayed primary dentition6
Behavioral issues with or without bone or brain MRI anomaliesFeeding difficulties39
Growth restriction34
Enlarged ventricles12
Agenesis of corpus callosum5
Age of onset before 2 yr