Table 2 MYO18B variants and clinical features of patients
From: The mutational burden and oligogenic inheritance in Klippel-Feil syndrome
Identifier | CS132 | CS1015 | CS1049 |
|---|---|---|---|
Sex/age (years) at diagnosis | F/12 | M/5 | F/7 |
Mutation information | |||
 Variant type | Splice region | Missense | Missense |
 Zygosity | Heterozygous | Heterozygous | Heterozygous |
 Chr_Position | 22_26219648 | 22_26164545 | 22_26299670 |
 Variant nomenclature | c.2695 + 3A > G | c.662 T > C (p.Leu221Pro) | c.5020G > A (p.Gly1674Arg) |
 ExAC AF | 0.000017 | 0.000034 | 0.000013 |
 gnomAD AF | Novel | 0.0000324 | 0.00003232 |
 In-house exome database AF | 0.0029 | Novel | Novel |
Clinical features | |||
 Fused levels | C2–C6 | C6–C7 | C1-T1 |
 Comorbidities | Protruding ears | Tetralogy of Fallot, congenital solitary kidney | Patent foramen ovale |
 Clinical manifestations | Clinical triad | None | Clinical triad, torticollis |
 Classification | Type III | Type I | Type III |
 Other vertebral and costal abnormalities | None | None | Rib fusion Sacrococcygeal agenesis |