Table 3 Genes identified with both large and small-effect mutations that affect stature and skeletal formation in humans

ACAN (aggrecan)

3

Spondyloepimetaphyseal dysplasia, aggrecan type (-) (OMIM 612813)

4

[7, 108–110]

ADAMTS10 (ADAM metallopeptidase with thrombospondin type 1 motif, 10)

1

Weill-Marchesani syndrome 1, recessive (-) (OMIM 277600)

2

[109, 111]

ARSE (arylsulfatase E) (chondrodysplasia punctata 1)

1

Chondrodysplasia punctata, X-linked recessive (-) (OMIM 302950)

2

[110, 112]

BBS1 (Bardet-Biedl syndrome 1)

1

Bardet-Biedl syndrome 1 (-) (OMIM 209900)

1

[109]

BBS7 (Bardet-Biedl syndrome 7)

1

Bardet-Biedl syndrome 7 (-) (OMIM 209900)

1

[109]

BRCA2 (breast cancer 2, early onset)

9

Fanconi anemia, complementation group D1 (-) (OMIM 605724)

1

[7]

COL11A1 (collagen, type XI, alpha 1)

4

Fibrochondrogenesis (-) (OMIM 228520)

1

[113]

CYP19A1 (cytochrome P450, family 19, subfamily A, polypeptide 1)

2

Aromatase deficiency (-) (OMIM 613546)

3

[7, 109, 114]

DYM (dymeclin)

2

Smith-McCort dysplasia (-) (OMIM 607326)

4

[7, 108, 109, 112]

EIF2AK3 (eukaryotic translation initiation factor 20alpha kinase 3)

1

Wolcott-Rallison syndrome (-) (OMIM 226980)

2

[7, 109]

EXT1 (exostosin 1)

2

Exostoses, multiple, type 1 (-) (OMIM 133700)

1

[115]

FANCC (Fanconi anemia, complementation group C)

1

Franconi anemia, complementation group C (-) (OMIM 227645)

1

[7]

FANCE (Fanconi anemia, complementation group E)

1

Franconi anemia, complementation group E (-) (OMIM 600901)

1

[7]

FBN2 (fibrillin 2)

1

Contractural arachnodactyly, congenital (+) (OMIM 121050)

1

[110]

FGFR3 (fibroblast growth factor receptor 2)

13

Achondroplasia (-) (Table 1)

1

[7]

FLNB (fibamin B, beta)

5

Larsen syndrome (-) (OMIM 150250)

1

[116]

GALNS (galactosamine (N-acetyl)-6-sulfate sulfatase)

1

Mucopolysaccharidosis IVA (-) (OMIM 253000)

1

[7]

GDF5 (growth differentiation factor 5)

8

Acromesomelic dysplasia, Hunter-Thompson type (-) (OMIM 201250)

1

[7]

GH1 (growth hormone 1)

4

Growth hormone deficiency, isolated, type IA (-) (OMIM 262400)

1

[109]

GHR (growth hormone receptor)

4

Laron dwarfism (-) (OMIM 262500)

1

[109]

GHSR (growth hormone secretagogue receptor)

1

Short stature (-) (OMIM 604271)

2

[7, 109]

HMGA2 (high-mobility group AT-hook 2)

1

Leiomyoma, uterine, somatic^b (-) (OMIM 150699)

9^e

[7, 10–112, 114, 117, 118]

IHH (Indian hedgehog)

2

Acrocapitofemoral dysplasia (-) (OMIM 607778)

2

[7, 111]

KCNJ2 (potassium inwardly-rectifying channel, subfamily J, member 2)

3

Atrial fibrillation, familial, 9 (-) (OMIM 613980)

1

[7]

PTCH1 (patched 1)

3

Basal cell nevus syndrome^c (-) (OMIM 109400)

3^e

[7, 108, 109, 119, 120]

RNF135 (ring finger protein 135)

1

Macrocephaly, macrosomia, facial dysmorphism syndrome (+) (OMIM 614192)

1

[7]

RPL5 (ribosomal protein L5)

1

Diamond-Blackfan anemia 6^d (-) (OMIM 612561)

1

[7]

RUNX2 (runt-related transcription factor 2)

2

Cleidocranial dysplasia (-) (OMIM 119600)

1

[7]

SLC39A13 (solute carrier family 39 (zinc transporter), member 13)

1

Spondylocheirodysplasia, Ehlers-Danlos syndrome-like (-) (OMIM 612350)

1

[7]

TBX15 (T-box 15)

1

Cousin syndrome (-) (OMIM 260660)

2

[108, 121]