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Table 1 Clinical phenotype and genotype of four unrelated patients with congenital heart disease carrying SMARCC2 deletion or loss-of-function variant

From: Expanding the phenotype associated with SMARCC2 variants: a fetus with tetralogy of Fallot

ID Sex Age Cardiac phenotype Extra cardiac phenotype Genetic abnormality Origin Reference
401,720 Female Infancy Ventricular septal defect Broad foot, broad palm, delayed speech and language development, feeding difficulties in infancy, hypertelorism, intellectual disability, muscular hypotonia, open mouth, premature birth, Strabismus, Thick eyebrow, Thick lower lip vermilion, Thick upper lip vermilion,Wide mouth [hg19]del(12)(q13.3q14.2p22.3)
chr12:g.56554154_63870277del
De novo DECIPHER database*
F6 Female Fetus Cardiac malposition of the great arteries and multiple ventricular septal defects Abdominal situs inversus SMARCC2 (ENST00000267064:
c.1555C > T, p.His519Ter) and NF1(ENST00000456735:c.2747G > A,p.His916Gln)
De novo Carss et al. (2014)
None Female 22 years old Congenital perimebranous ventricular defect Neonatal respiratory distress syndrome,neurodevelopmental delay, poor verbal language, dysmorphic facial features, skeletal abnormalities, trigeminal nerve palsy, bilateral mixed hearing loss, rhinolalia, dysarthria and acquired dysphagia for solid foods 500 Kb-long deletion at 12q13.2-q13.3 that contains SMARCC2 and other 25 genes De novo Roberti et al. (2018)
None Female Fetus Tetralogy of Fallot None SMARCC2 (NM_003075.5: c.3561del, p.Leu1188fs) De novo This study
  1. *https://decipher.sanger.ac.uk/