Table 1.
Comparison of Clinical Features in SMG8- and SMG9-Mutated Individuals
| Family 1 | Family 2 | Family 3 | Family 4 | SMG9-Mutated Individuals | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Individual | 19DG1424 | MDLREQ20196451 | 19DG1391 | 19DG1396 | 19DG0152 | 19DG1342 | 19DG0377 | 10DF10800_a | 10DF10800_b | |
| Age | 23 months | fetus | 7 y | 19 y | 18 y | 28 y | 10 y | 8 y | 3 y | |
| Gender | f | ? | m | m | m | m | f | f | m | |
| CHD | VSD, PFO, PLSVC, DCS | ?LPAS | − | VSD | − | − | − | ASD, VSD | − | 4/4 |
| Facial dysmorphism | + | + | + | + | + | + | + | + | + | 4/4 |
| GDD | + | NA | + | + | + | + | + | + | + | 4/4 |
| Microcephaly | + | + | − | borderline | + | − | + | + | + | 3/3 |
| Short stature | + | + | − | − | borderline | − | borderline | + | + | 3/3 |
| CNS anomalies | ? | wide CSP and ventricles | AWM | ? | − | ? | ? | AWM, BA | AWM | 4/4 |
| Eye findings | − | ? | − | strabismus | strabismus | cataract | − | cataract | cataract | 3/4 |
| GU | − | ? | − | − | dilated RCS, TUB, hypospadias | hypospadias | − | − | hypospadias | 1/4 |
Age at last assessment is shown. Abbreviations are as follows: f, female; m, male; AWM, abnormal white matter; BA, brain atrophy; CHD, congenital heart disease; CNS, central nervous system; CSP, cavum septum pellucidum; DCS, dilated coronary sinus; GDD, global developmental delay; GU, genitourinary; LPAS, left pulmonary artery sling; PFO, patent foramen ovale; PLSVC, persistent left superior vena cava; RCS, renal collecting system; and VSD, ventricular septal defect.