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Table 1 Genetic defects in 17 families with hereditary multiple Exostoses

From: Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses

Family Pt # DX Age (year) and Height
(cm)
Onset Age
(year)
Sex Clinical features EXT1 mutation NM_000127 EXT2 mutation NM_207122 Family history
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 4th 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
  1. ND: not detected; #de novo mutations. Disease severity is divided into 3 classes using the following criteria: Class I: no deformities and no functional limitations [A ≤ 5 sites with osteochondromas, B > 5 sites with osteochondromas]; Class II: deformities and no functional limitations [A ≤ 5 sites with deformities, B > 5 sites with deformities]; and Class III: deformities and functional limitations [A functional limitation of 1 site, B functional limitation of > 1 site] [9]