Table 1.
Detailed Clinical Features of SGS Individuals and Summary of the Detected Mutations in SKI
|
Family 1 |
Family 2 |
Family 3 |
Family 4 |
Family 5 |
Family 6 |
Family 7 |
Family 8 |
Family 9 |
Family 10 |
Family 11 |
Family 12 |
Family 13 |
Total | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| II-1 | II-1 | III-4 | IV-2 | II-1 | III-1 | III-2 | II-2 | II-3 | II-4 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | ||
| Sex | F | F | M | F | F | F | M | F | F | F | M | M | F | F | F | F | M | M | M | 12F and 7M |
| Age (years) | 21 | 20 | 42 | 11 | 44a | 13 | 14 | 22 | 22 | 20 | 18 | 16 | 5 | 21 | 10a | 11 | 32 | 20 | 26 | − |
| Craniosynostosis | + | + | − | − | − | − | − | + | + | + | + | + | − | + | + | + | − | + | + | 12/19 |
| Arachnodactyly | − | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | 18/19 |
| Pectus deformity | + | + | + | − | − | − | − | + | + | + | + | + | + | + | + | + | + | + | + | 15/19 |
| Scoliosis | − | + | + | + | + | − | + | + | + | + | + | + | − | + | + | + | + | + | + | 16/19 |
| Joint contractures | + | + | + | + | + | + | + | + | + | + | − | + | − | + | + | + | − | + | − | 15/19 |
| Camptodactyly | + | + | − | − | − | − | − | − | − | − | − | + | − | + | + | + | + | + | + | 9/19 |
| Foot malposition | + | + | + | + | + | + | + | + | + | + | + | + | − | + | + | + | + | + | − | 17/19 |
| Scaphocephaly or dolichocephaly | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | − | + | + | + | 18/19 |
| Hypertelorism | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | − | + | + | + | 18/19 |
| Proptosis | + | + | + | − | + | + | − | + | + | − | + | − | + | + | + | + | + | + | + | 15/19 |
| Downslanting palpebral fissures | + | + | + | + | + | + | + | + | + | + | + | + | + | + | − | + | + | − | − | 16/19 |
| Micrognathia or retrognathia | + | + | + | − | + | − | − | + | + | + | + | + | + | + | + | − | + | + | + | 15/19 |
| Intellectual disability | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | 19/19 |
| Hernias | − | − | − | − | − | − | − | + | + | + | + | − | + | + | + | + | + | + | + | 11/19 |
| Loss of subcutaneous fat | + | − | − | − | − | − | − | + | + | − | − | + | − | + | + | − | − | + | − | 7/19 |
| Valvular anomalies | − | − | − | − | − | − | − | − | − | − | MVP | − | − | MVP | MVP, MI | MVP | MVP, MI | − | − | 5/19 |
| Aortic root dilatation | − | − | − | − | − | − | − | − | − | − | +b | − | − | − | UNL | + | + | − | − | 3/19 |
| Myopia | − | − | + | + | + | + | − | + | + | N/A | − | − | − | − | + | − | + | − | − | 8/18 |
| SKI mutation | c.100G>T | c.94C>G | c.280_291delTCCGACCGCTCC | c.280_291delTCCGACCGCTCC | c.280_291delTCCGACCGCTCC | c.280_291delTCCGACCGCTCC | c.280_291delTCCGACCGCTCC | c.101G>T | c.101G>T | c.101G>T | c.104C>A | c.94C>G | c.283_291delGACCGCTCC | c.103C>T | c.95T>C | c.100G>A | c.94C>G | c.92C>T | − | − |
| Amino acid substitution | p.Gly34Cys | p.Leu32Val | p.Ser94_Ser97del | p.Ser94_Ser97del | p.Ser94_Ser97del | p.Ser94_Ser97del | p.Ser94_Ser97del | p.Gly34Val | p.Gly34Val | p.Gly34Val | p.Pro35Gln | p.Leu32Val | p.Asp95_Ser97del | p.Pro35Ser | p.Leu32Pro | p.Gly34Ser | p.Leu32Val | p.Ser31Leu | − | 18/19 |
| Inheritance | de novo | de novo | AD | AD | AD | AD | AD | AD, SM | AD, SM | AD, SM | de novo | father N/A | de novo | de novo | de novo | parents N/A | parents N/A | parents N/A | AD | − |
The following abbreviations are used: AD, autosomal dominant; F, female; SM, somatic mosaicism; M, male; MVP, mitral valve prolapse; MI, mitral insufficiency; N/A, not available; and UNL, upper normal limit.
a
Affected individual 5 died of respiratory insufficiency. Affected individual 15 died suddenly, and an autopsy showed severe mitral valve dysplasia with calcifications of the mitral annulus.
b
Aortic dilatation requiring surgery at 16 years of age (aortic root dilatation with Z score = 7.014). He also has vertebrobasilar and internal carotid tortuosity and a dilated pulmonary-artery root.