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 |