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Table 1 Clinical features of families SND-65, SND-117 and NAD-05

From: Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds

ID

Sex

Age (years)

Height (inch)

SD

Variant

Mobility

GnomAD frequency

Mutation Assessor

Revel Scoreb

Family SND-65

 IV:3

F

15

44

-8.7

c.590T>C;p.(Leu197Pro)

Unable to walk and stand

N/A

0.821

.909

 IV:6

M

13

39

-7.7

c.590T>C;p.(Leu197Pro)

Unable to walk and stand

N/A

0.821

.909

 IV:7

F

NAa

NAa

NA

c.590T>C;p.(Leu197Pro)

Unable to walk and stand

N/A

0.821

.909

 IV:11

M

NAa

NAa

NA

c.590T>C;p.(Leu197Pro)

Unable to walk and stand

N/A

0.821

.909

Family SND-17

 III:4

F

17

NAa

NA

c.603C>A;p.(Tyr201Ter)

Unable to walk and stand

N/A

N/A

N/A

 III:6

F

14

NAa

NA

c.603C>A;p.(Tyr201Ter)

Unable to walk and stand

N/A

N/A

N/A

 III:7

M

15

NAa

NA

c.603C>A;p.(Tyr201Ter)

Unable to walk and stand

N/A

N/A

N/A

 III:8

M

10

NAa

NA

c.603C>A;p.(Tyr201Ter)

Unable to walk and stand

Frequent fractures

N/A

N/A

N/A

 III:9

M

7

NAa

NA

c.603C>A;p.(Tyr201Ter)

Unable to walk and stand

N/A

N/A

N/A

Family NAD-05

 IV:1

M

25

44

-8.7

c.661C>T;p.(Arg221Cys)

Assisted walking

0.00003188

2.85

0.936

 IV:4

F

27

42

-9.0

c.661C>T;p.(Arg221Cys)

Walking with abnormal gait

0.00003188

2.85

0.936

  1. a NA Not available, SD Height standard deviation score
  2. b Revel score above 0.5 indicate pathogenic variant