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Table 2 Comparison of clinical features of all patients having biallelic FLNB variants

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%

  1. NR Not reported