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Table 2 Gene mutation of genetic skeletal disorders published in Chinese biomedical literature from 1978 to 2012*

From: A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012

Gene

Name of disorder

MIM No.

No. of case reported*

Mutation

Location

Type

Novel

ACVR1

Fibrodysplasia ossificans progressiva (FOP)

135100

2

c.617 G > A (p.R206H)

exon 4

missense

 
   

1

c.1067 G > A (p.G356D)

exon 7

missense

 

ALPL

Hypophosphatasia, infantile forms

241500

1

c.18delA and c.G407C (p.V7Yfs18X and p.R136P)

exon 2 and 5

nonsense and missense

yes

ALPL

Hypophosphatasia, adult form

146300

1

c.1366 G > A (p.G456R)

exon 12

missense

 
   

1

c.1581C > G (p.P446G)

exon 12

missense

yes

   

1

c.583 G > A (p.R136H)

exon 5

missense

 

CLCN5

Dent’s disease

300554

1

p.L594fsX595

exon 10

nonsense

yes

   

1

p.R637X

exon 10

nonsense

 
   

1

p.R467X

exon 9

nonsense

 
   

1

p.IVS4-2A > G

exon 4

splicing

yes

   

1

c.1022C > T (p.S244L)

exon 7

missense

 
   

1

c.1805 T > G (p.V505G)

exon 9

missense

yes

CLCN7

Osteopetrosis, late-onset form type 2 (OPTA2)

166600

1

c.C856T (p.R286W)

exon 10

missense

 

COL1A2

Osteogenesis imperfecta

 

1

c.A3350G (p.Y1117C)

exon 49

missense

 
   

1

c.G3305C (p.G1102A)

exon 49

missense

 

COL1A1

Osteogenesis imperfecta

166220

1

c.1678 G > A (p.G560S)

exon 25

missense

 
  

166200

1

p.Gly632x

exon 28

nonsense

yes

  

166200

1

p.D1441H

exon 52

missense

yes

  

166200

1

c.1875 + 1 G > A (IVS 27 + 1 G > A)

intron 27

splicing

yes

  

166200

1

IVS8-2A > G

intron 8

splicing

yes

   

1

c.2461 G > A (p.G821S)

exon 36

missense

 
   

1

c.3470 G > A (p.G1157D)

 

missense

yes

COL2A1

Spondyloepiphyseal dysplasia congenita (SEDC)

183900

1

c.1510 G > A (p.G504S)

 

missense

 
   

1

c.2401 G > A (p.G801S)

 

missense

 

EFNB1

Craniofrontonasal Syndrome

304110

1

c.161C > G (p.P54R)

exon 2

missense

yes

COMP

Pseudoachondroplasia

177170

1

c.815 T > C (p.L272P)

exon 8

missense

 

EIF2AK3

SED, Wolcott–Rallison type

226980

1

c.1408-1409insT and c.1596 T > A (p.S470FfsX7 and p.C532X)

exon 8 and 9

nonsense

 

EXT1

Multiple cartilaginous exostoses 1

133700

1

c.1564-7delC

exon 7

frameshift

yes

   

1

I8 + 2 T > G

intron 8

splicing

yes

   

1

c.651_664delinsTTT (p.K218fsX220)

exon 1

nonsense

 
   

1

c.680delG (p.R227fs)

exon 1

frameshift

 
   

1

c.1182delG (p.Arg394SerfsX9)

exon 4

nonsense

yes

   

1

c.1108 G > T (p.E370X)

exon 3

nonsense

yes

   

1

c.335delA (p.Asn112ThrfsX24)

exon 1

nonsense

yes

   

1

c.361C > T (p.Q121X)

exon 1

nonsense

yes

   

1

c.1879_1881delCAC (p.His627del)

exon 9

In frame deletion

yes

   

1

c.651_664delinsTTT (p.K218fsX220)

exon 1

frameshift

 
   

1

1633-26(C > A)

intron 7

splicing

 
   

1

c.2120delT

exon 6

frameshift

 
   

1

c.811 T > C (p.Y271H)

exon 1

missense

yes

EXT2

Multiple cartilaginous exostoses 2

133701

1

c.668 G > C (p.Arg223Pro)

exon 2

missense

 
   

1

c.950delT (p.Phe317SerfsX15)

exon 6

nonsense

yes

   

3

c.1016 G > A (p.Cys339Tyr)

exon 6

missense

 
   

1

c.398 T > G (p.L133R)

exon 2

missense

 
   

1

c.751C > T (p.Q251X)

exon 5

missense

 
   

1

c.544C > T (p.R182X)

exon 3

missense

 
   

1

c.536 G > A (p.Arg179Lys)

exon 2

missense

 
   

1

c.1006C > T (p.G1n336X)

exon 6

nonsense

yes

   

1

IVS2 + 1 G > A

intron 2

splicing

 
   

1

IVS7 + 1 G > T

intron 7

splicing

 
   

1

c.789-796delTGTT

exon 5

frameshift

yes

   

1

c.637 G > A

exon 4

nonsense

 
   

1

c.313A > T (p.Lys105X)

exon 2

nonsense

 
   

1

319insGT

exon 2

frameshift

 
   

1

536 + 1 G > A (IVS2 + 1 G > A)

intron 2

splicing

 

FBN1

Marfan syndrome

154700

1

c.3463 G > A (p.Asp1155Asn)

exon 27

missense

yes

   

1

c.5015 G > C (p.C1672S)

exon 40

missense

 
   

3

c.5309 G > A (p.C1770Y)

exon 43

missense

 
   

2

c.7241 G > A (p.R2414Q)

exon 58

missense

 
   

2

c.7769 G > A (p.C2590Y)

exon 62

missense

 
   

2

c.2261A > G (p.Y754C)

exon 18

missense

 
   

1

c.[6862_6871delGGCTGTGTAG;6871 + 1_6871 + 11delGTAAGAGGATC] (p.Gly2288MetfsX109)

exon 55

nonsense

yes

   

1

c.2462 G > A (p.Cys821Tyr)

exon 20

missense

yes

   

1

c.5015 G > C (p.C1672S)

exon 40

missense

 
   

1

c.3295 G > T (p.E1099X)

exon 26

nonsense

 
   

2

c.4307insTCGT (p.G1441X)

exon 34

nonsense

yes

   

1

c.4621C > T (p.R1541X)

exon 37

nonsense

 
   

1

c.8080C > T (p.A2694X)

exon 64

nonsense

 
   

2

IVS29 + 4A > T

intron 29

splicing

 
   

1

IVS50 + 1 G > A

intron 50

splicing

 
   

1

c.3069 G > T (p.Lys1023Asn)

exon 24

missense

yes

   

1

c.3243-3256delGCCTCTGCACCCA

exon 25

frameshift

 

FGFR1

Pfeiffer syndrome

101600

1

c.755C > G (p.Pro252Arg)

exon 5

missense

 

FGFR2

Pfeiffer syndrome

101600

1

IVS8 A > G

exon 8

splicing

 
   

1

p.Asp321Ala

exon 9

missense

 
 

Apert syndrome

101200

1

c.934C > G (p.S252W)

exon 7

missense

 
 

Crouzon syndrome

123500

1

c.833 G > T (p.C278F)

exon 8

missense

 
   

1

p.Tyr340His

exon 9

missense

 
   

1

p.Cys342Trp

exon 9

missense

yes

   

1

p.Cys342Tyr

exon 9

missense

 
   

1

p.Ala344Ala

exon 9

missense

 
   

1

p.Gly338Arg

exon 9

missense

 
   

1

p.Ala344Gly

exon 9

missense

 
   

1

p.Gln289Pro

exon 7

missense

 

FGFR3

Achondroplasia

100800

21

c.1138 G > A (p.G380R)

exon 10

missense

 
   

1

p.Ser217Cys

exon 5

missense

 

FGFR3

Thanatophoric dysplasia

187600

1

c.742C > T (p.R248C)

exon 7

missense

 

GALNS

Mucopolysaccharidosis type 4A

253000

1

c.1567 T > G and c.374C > T

exon 14 and 4

nonsense and missense

yes

GDF5

Multiple synostoses syndrome type 2

186500

2

c.1471 G > A (p.E491K)

exon 2

missense

 

GNAS1

Albright hereditary osteodystrophy

103580

1

1-bp (C) deletion at codon 291

exon 11

frameshift

 

HLXB9

Currarino triad

176450

2

c.552C > G (p.Tyr184X)

 

nonsense

 

TP63

Split hand-foot malformation, isolated form, type 4 (SHFM4)

605289

1

c.956 G > A (p.R280H)

exon 7

missense

 

HOXD13

Synpolydactyly

186000

1

c.32 G > C (p.G11A)

exon 1

missense

 
   

1

c.64 G > T (p.A22S)

exon 1

missense

yes

   

3

9-residue polyalanine expansion

exon 1

  
 

yes

      
   

1

8-residue polyalanine expansion

exon 1

  
   

1

7-residue polyalanine expansion

exon 1

  

IDS

Mucopolysaccharidosis type 2

309900

1

c.892C > T (p.Q298X)

exon 7

nonsense

 
   

1

c.1468delA

exon 9

frameshift

 
   

1

c.263 G > A (p.Arg88His)

exon 3

missense

 
   

1

1103_1123del19

exon 8

frameshift

 

IHH

Brachydactyly type A1

112500

1

c.G298A (p.D100N)

exon 1

missense

 

NF1

Neurofibromatosis type 1

162200

1

c.1009 G > T

exon 7

nonsense

yes

   

1

c.3443-3444delCA

exon 20

frameshift

yes

   

1

c.4339C > T (p.G1336X)

 

nonsense

 
   

1

c.5839C > T (p.R1947X)

exon 31

nonsense

 
   

1

p.Leu1141Arg

exon 20

missense

 

TP63

Ankyloblepharon-ectodermal dysplasia-cleft lip/palate

106260

1

c.838C > T (p.R280C)

exon 7

missense

 
 

Limb-mammary syndrome (including ADULT syndrome)

603273

1

c.893 G > A (p.R298Q)

exon 8

missense

 

PHEX

Hypophosphatemic rickets, X-linked dominant

307800

1

IVS20-1 G > T

intron 20

splicing

 
   

1

c.1861C > T (p.GIn621X)

exon 18

missense

yes

PTPN11

Baller–Gerold syndrome

218600

1

IVS11-1 G > A and c.3401A > T

intro 11 and exon 10

splicing and nonsense

 

ROR2

Brachydactyly type B

113000

1

c.2265C > A (p.Y755X)

exon 9

nonsense

 
   

1

c.1398-1399insA

exon 9

nonsense

 

RUNX2

Cleidocranial dysplasia

119600

1

c.346 T > A (p.W116R)

exon 1

missense

 
   

1

c.610A > T (p.K204X)

exon 3

nonsense

 
   

1

c.346 T > A (p.W116R)

exon 1

missense

 
   

1

c.475 G > C (p.G159R)

exon 2

missense

yes

   

1

c.673C > T (p.R225W)

exon 3

missense

 
   

1

c.1171C > G (p.R391X)

exon 7

nonsense

 
   

1

c.674 G > A (p.R225Q)

exon 3

missense

 

SALL1

Townes–Brocks syndrome (Renal-Ear-Anal-Radial syndrome)

107480

4

c.1792 G > C

exon 2

missense

 

SEDL

SED tarda, X-linked (SED-XL)

313400

1

c.218C > T (p.S73L)

exon 4

missense

 
   

1

c.370-371insA (p.S124fsX127)

exon 6

nonsense

yes

   

1

c.218C > T (p.S73L)

exon 4

missense

 
   

1

c.239A > G (p.H80R)

exon 4

missense

 
   

1

c.G209A

exon 4

nonsense

 
   

1

c.262-266delGACAT

exon 5

frameshift

 
   

1

D109-S123del (p.S124fsX126)

intron 5-exon 6

nonsense

 
   

1

IVS5-2-1delAG322-332delTTTTCAATGAA

intron 5-exon 6

splicing

yes

   

1

IVS2-2A > C

intron 2

  

SH3BP2

Cherubism

118400

5

c.1505 G > C (p.Arg415Pro)

exon 9

missense

 
   

2

c.G1520A (p.Gly420Glu)

exon 9

missense

 

SHOX

Dyschondrosteosis

127300

1

c.115 T > G

exon 2

  
   

1

c.1171-1172insA

exon 3

frameshift

 
   

1

c.996A > T (p.E102V)

exon 3

missense

 

SOX9

Campomelic dysplasia (CD)

114290

1

p.R178L

exon 2

missense

yes

TBX5

Holt-Oram syndrome

142900

1

c.416delC

exon 4

frameshift

 
   

1

c.145C > A

exon 2

missense

 
   

1

c.161 T > C

exon 2

missense

 

TGFbeta1

Diaphyseal dysplasia Camurati-Engelmann

131300

1

p.R218H

exon 4

missense

 

WISP3

Progressive pseudorheumatoid dysplasia

208230

1

c.624-625insA and c.729-735delGAGAAAA

exon 4 and exon 4

frameshift and frameshift

yes

   

1

c.624-625insA and c.866-867insA

exon 4 and exon 5

frameshift and frameshift

yes

   

1

c.866_867insA and c.866-867insA

exon 5 and exon 5

frameshift and frameshift

yes

   

1

c.589 + 2 T > C and c.624dupA

intro 3 and exon 4

splicing and nonsense

yes

  1. *: “Pedigree mutation”, that is an identical mutation has been reported in more than one affected siblings in a family, was counted as one case. Mutation information was extracted from the full text, as its original description, all the novel mutations were claimed in the papers by the authors, and then were confirmed by searching the previous literature and the Human Gene Mutation Database.