Table 1 Genetic defects in 17 families with hereditary multiple Exostoses

1

1

32, 157

18

M

Class IIIB severity and surgical excision of exostosis from left hip joint duo to decreased range of motion and pain. Two exostoses were found

c.1469delT (p.L490Rfs*9) exon 6, reported [37]

ND

Younger sister is affected

2

2

17, 156

8

M

Class IIIB severity and surgical excision of exostosis from the head of fibula duo to nerve compression. Four exostoses were found

#c.739G > T (p. E247*), exon 1, novel mutation (not reported in the literature)

ND

NO

3

3

18, 149

8

M

Class IIA severity and surgical excision of left distal tibia exostosis excision. Two exostoses were found

ND

ND

NO

4

4

Father

40, 165

N/A

M

Class IA severity (mild asymptomatic disease). Two exostoses were found

ND

c.626 + 2_626 + 5delTAGG, intron 3, reported [38]

5

14, 149

10

F

Class IIIB severity and surgical excision of two exostoses on the right leg

ND

c.626 + 2_626 + 5delTAGG, intron 3, reported [38]

2 siblings are affected

5

6

18, 149

11

F

Class IIIB severity and surgical excision of left proximal femur and tibia exostoses. Three exostoses were found

#c.1319delG (p.R440Lfs*4), exon 5, novel mutation

ND

NO

6

7

Father

55, 164

N/A

Class IA severity (mild asymptomatic disease). Two exostoses were found

ND

c.541delG (p.D181Ifs*89), exon 3, novel mutation

8

29, 156

10

F

Class IIA severity with mental retardation, epilepsy and developmental disorder Two exostoses were found

ND

c.541delG (D181Ifs*89), exon 3, novel mutation

5 siblings are affected

9

9, 133

7

M

Class IA severity (mild asymptomatic disease). Two exostoses were found

ND

c.541delG (D181Ifs*89), exon 3, novel mutation

7

10

24, 180

18

M

Class IA severity (mild asymptomatic disease). Two exostoses were found at distal right femur

ND

c.544C > T, p.R182*, exon 3, reported [39]

All of his 5 brother and 4 of 7 sisters are affected

8

11

23, 160

10

F

Class IA severity (mild asymptomatic disease). Four exostoses were found

ND

# 10 kb homozygous deletion including promoter and exon 1, novel mutation

NO

9

12

Mother

62, 156

N/A

F

Class IA severity (mild asymptomatic disease). Two exostoses were found

ND

homozygous c.540G > A (p.W180*), exon 3, reported [11]

Her brother is affected with no symptoms

13

36, 160

15

F

Class IIIB severity and surgical excision of exostoses and deformity correction. Three exostoses were found

ND

c.540G > A (p.W180*), exon 3, reported [11]

10

14

Father

49, 165

N/A

M

Class IA severity (mild asymptomatic disease). Two exostoses were found

c.1021A > G, (p.R341G), exon 2, reported [5]

ND

15

23, 170

18

M

Class IIIB severity and surgical excision of exostoses from both tibia, femur, and radius. Currently complaining of left hip pain. Three exostoses were found

c.1021A > G (p.R341G), exon 2, reported [5]

Yes, all of his 4 brothers and one sister are affected with mild form of the disease

11

16

22, 171

18

F

Class IIIA severity and surgical excision of exostoses from head of the fibula. Three exostoses were found

ND

ND

NO

12

17

29, 162

10

M

Class IIIB severity and surgical excision of exostoses from right proximal tibia, right distal tibia and 4^th rib excision. Three exostoses were found

ND

ND

NO

13

18

15, 159

10

F

Class IIIA severity. Two exostoses were found in the upper extremities

ND

ND

NO

14

Father

42

M

normal

ND

ND

Mother

41

F

normal

ND

ND

19

15, 140

6

M

Class IIIB severity and surgical excision of exostosis from left hip joint duo to decreased range of motion and pain. Four exostoses were found

#c.1786delA, (p.S596Afs*25, exon 9, novel mutation

ND

NO

15

20

29, 169

8

M

Class IIIB severity and surgical excision of exostoses from left and right knees. Five exostoses were found

ND

#c.484delC (p.Q162Rfs*108), exon 2, reported [40]

NO

16

21

42, 170

20

M

Class IIIB severity with malignant transformation to osteochondrosarcoma at right pelvic. Three exostoses were found

ND

c.583delG (p.G195Vfs*75), exon 3, novel mutation

Yes, several nephews of his are affected but none of them required clinical intervention

17

22

7, 120

7

M

Class IIA severity with symptomatic bone deformities. Two exostoses were found

^#heterozygous deletion of exon 2–11, reported [41]

ND

NO