Table 1.
Summary of clinical features of the NADSYN1 variant carriers from the DISCO cohort. Patients were diagnosed with congenital scoliosis presenting with vertebral deformities and other malformations. The RefSeq transcript sequence of the NADSYN1 gene is NM_018161.5. Abbreviations: Het, heterozygous; M, male; F, female; yo, years-old; T, thoracic vertebra; L, lumbar vertebra.
| Patient Number | Variant | Zygosity | Sex | Age at Admission | Vertebral Deformities | Other Malformations |
|---|---|---|---|---|---|---|
| SCO2003P0298 | c.232G > A(p.Val78Ile) | Het | F | 12 yo | T3, T5, T6, T7, T8 vertebral malformation and unsegmentation, T10–T11 unsegmentation | Diastematomyelia, multiple hepatic polycysts, maxillary sinusitis |
| SCO2003P1273 | c.709G > A(p.Gly237Arg) | Het | M | 13 yo | T2–L3 vertebral malformation and unsegmentation | Diastematomyelia, spina bifida, mucocele |
| SCO2003P0164 | c.861delT(p.Arg288GlufsTer14) | Het | M | 11 yo | T6 butterfly vertebra, T7 hemivertebra, T5–T9 fused vertebral plate; T7 rib absent, T9–T10 fused rib | Renal aplasia (left) |
| SCO2003P0240 | c.1037G > A(p.Arg346Gln) | Het | M | 6 yo | T10, T11, T12 hemivertebrae | Bicuspid aortic valve |
| SCO2003P1980 | c.1216C > T(p.Arg406Ter) | Het | F | 1 yo | T6–T10 unsegmentation | Mitral insufficiency |
| SCO2003P0096 | c.1511G > A(p.Arg504Gln) | Het | F | 9 yo | L2 wedge-shape vertebra, L3 wedge-shape vertebra, L1–L4 unsegmentation | Tethered cord, multiple hepatic polycysts, splenomegaly |
| SCO2003P0286 | c.1762G > A(p.Glu588Lys) | Het | F | 1 yo | T3–T8 vertebral malformation and unsegmentation | Renal aplasia (left), polydactyly (left), dilatation of central canal of spinal cord |
| SCO2003P0106 | c.2083G > A(p.Glu695Lys) | Het | M | 10 yo | T7, T8, T9 butterfly vertebrae, T6–T10 unsegmentation | Diastematomyelia, mitral valve prolapse |
| SCO2003P0213 | c.2083G > A(p.Glu695Lys) | Het | M | 22 yo | T8–T9 unsegmentation, T9–T10 rib bifurcation | Diastematomyelia, tethered cord |