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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.