From: Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report
Study | Variant | Gender (Ma:F) | Short stature | Short neck | Carpal fusion | Scoliosis | Facial deformities | Tarsal fusion | Hearing deficit | Lordosis | Enamel hypoplasia |
---|---|---|---|---|---|---|---|---|---|---|---|
(Krakow et al., 2004) [9] | c.1945C > T c.2452C > T c.4819C > T c.6408delC c.7029 T > G | 5:6 | 11/11 | 9/11 | 11/11 | 11/11 | 11/11 | 7/11 | 7/11 | NR | 7/11 |
(Farrington-Rock et al., 2007) [10] | c.4671G > A c.5548G > T | 2:0 | 2/2 | 2/2 | NR | 2/2 | NR | NR | NR | NR | NR |
(Mitter et al., 2008) [11] | c.6010C > T | 1:0 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | NR | 1/1 | 0/1 | NR |
(Yang et al., 2017) [1] | c.7621dupG | 0:2 | 2/2 | 2/2 | 2/2 | 2/2 | 0/2 | 0/2 | 1/2 | 2/2 | 0/2 |
(Salian et al., 2018) [3] | c.28G > T c.429delinsCT c.1204delG c.1243C > T c.1493delA c.1592dup c.6317delC | 6:4 | 10/10 | 6/10 | 9/10 | 9/10 | 3/10 | 3/10 | 2/10 | 2/10 | NR |
Present study | c.2911dupG | 3:2 | 5/5 | 5/5 | 4/5 | 3/5 | 3/5 | 3/5 | 1/5 | 3/5 | 0/5 |
Summary of features | All nonsense or frameshift variants | 17:14 | 100% | 93% | 90% | 90% | 54% | 41% | 38% | 22% | 22% |