The life cycle of chondrocytes in the developing skeleton

Shum, Lillian; Nuckolls, Glen

doi:10.1186/ar396

Arthritis Research & Therapy

Table 1 Selected genes causal to skeletal diseases and disorders

From: The life cycle of chondrocytes in the developing skeleton

OMIM #	Gene name	Gene symbol	Diseases and disorders
114290	Sry-related HMG-box gene 9	SOX9	Acampomelic campomelic dysplasia
			Campomelic dysplasia
			Campomelic dysplasia with autosomal sex reversal
120110	Collagen, type X alpha-1	COL10A1	Metaphyseal chondrodysplasia, Schmid type
			Spondylometaphyseal dysplasia, Japanese type
120140	Collagen, type II alpha-1	COL2A1	Achondrogenesis, type II
			Achondrogenesis-hypochondrogenesis, type II
			Hypochondrogenesis
			Kniest dysplasia
			Osteoarthritis with mild chondrodysplasia
			Spondyloepimetaphyseal dysplasia, Strudwick type
			Spondyloepiphyseal dysplasia, various types
			Spondylometaphyseal dysplasia, congenital type
			Spondyloperipheral dysplasia
			Stickler syndrome, type I
			Wagner syndrome
120150	Collagen, type I alpha-1	COL1A1	Ehlers–Danlos syndrome, types I and VIIA
			Osteogenesis imperfecta, types I, II, III, and IV
120160	Collagen, type I alpha-2	COL1A2	Ehlers–Danlos syndrome, type VII-B
			Osteogenesis imperfecta, types II, III, and IV
			Osteogenesis imperfecta/Ehlers–Danlos crossover syndrome
			Marfan syndrome, atypical
120180	Collagen, type III alpha-1	COL3A1	Arterial and aortic aneurysms
			Ehlers–Danlos syndrome, types III and IV
120190	Collagen, type V alpha-2	COL5A2	Ehlers–Danlos syndrome, types I and II
120215	Collagen, type V alpha-1	COL5A1	Ehlers–Danlos syndrome, types I, II, and mixed type
120260	Collagen, type IX alpha-2	COL9A2	Epiphyseal dysplasia, multiple, type 2
			Intervertebral disc disease
120270	Collagen, type IX alpha-3	COL9A3	Epiphyseal dysplasia, multiple, type 3
			Epiphyseal dysplasia, multiple, with myopathy
120280	Collagen, type XI alpha-1	COL11A1	Stickler syndrome, type II
			Marshall syndrome
120290	Collagen, type XI alpha-2	COL11A2	Sensorineural deafness, autosomal dominant nonsyndromic
			Otospondylomegaepiphyseal dysplasia
			Stickler syndrome, type III
			Weissenbacher–Zweymuller syndrome
120360	Matrix metalloproteinase 2	MMP2	Osteolysis, idiopathic, Saudi type
121050	Fibrillin 2	FBN2	Contractural arachnodactyly, congenital
123101	Muscle segment homeobox 2	MSX2	Craniosynostosis, Boston-type
			Parietal foramina 1
125505	Deoxyribonuclease I	DNASE1	Systemic lupus erythematosus susceptibility
133700	Exostosin 1	EXT1	Exostoses, multiple, type 1
			Chondrosarcoma
133701	Exostosin 2	EXT2	Exostoses, multiple, type II
134797	Fibrillin 1	FBN1	Marfan syndrome, various types
			Ectopia lentis, familial
			Marfanoid skeletal syndrome
			Mass syndrome
			Shprintzen-Goldberg syndrome
134934	Fibroblast growth factor receptor 3	FGFR3	Achondroplasia
			Crouzon syndrome with acanthosis nigricans
			Hypochondroplasia
			Muenke syndrome
			Multiple myeloma
			Saddan dysplasia
			Thanatophoric dysplasia, types I and II
136350	Fibroblast growth factor receptor 1	FGFR1	Pfeiffer syndrome
139250	Growth hormone 1	GH1	Growth hormone deficiency
			Isolated growth hormone deficiency, type I
			Kowarski syndrome
139320	Guanine nucleotide-binding protein,	GNAS1	Mccune–Albright syndrome
	alpha-stimulating activity polypeptide 1		Albright hereditary osteodystrophy
			Pituitary adenoma, ACTH-secreting
142461	Heparan sulfate proteoglycan	HSPG2	Schwartz–Jampel syndrome, type 1
	of basement membrane, perlecan		Dyssegmental dysplasia, Silverman–Handmaker type
142958	Homeobox A11	HOXA11	Radioulnar synostosis with amegakaryocytic thrombocytopenia
147620	Interleukin 6	IL6	Interleukin 6 polymorphism associated with systemic onset
			juvenile rheumatoid arthritis
154870	Matrix gamma-carboxyglutamic	MGP	Keutel syndrome
	acid protein
156845	Microphthalmia-associated	MITF	Waardenburg syndrome, type IIA
	transcription factor		Tietz albinism–deafness syndrome
157660	Mitochondrial RNA-processing	RMRP	Cartilage–hair hypoplasia
	endoribonuclease (RNA component of)
168450	Parathyroid hormone	PTH	Hypoparathyroidism
168468	Parathyroid hormone receptor 1	PTHR1	Metaphyseal chondrodysplasia, Murk Jansen type
			Chondrodysplasia, Blomstrand type
176943	Fibroblast growth factor receptor 2	FGFR2	Apert syndrome
			Beare–Stevenson cutis gyrata syndrome
			Craniosynostosis, nonsyndromic unicoronal
			Crouzon syndrome
			Jackson–Weiss syndrome
			Pfeiffer syndrome
			Saethre–Chotzen syndrome
190180	Transforming growth factor, beta-1	TGFB1	Camurati–Engelmann disease
193500	Paired box gene 3	PAX3	Waardenburg syndrome, types I, II, and III
			Waardenburg syndrome with meningomyelocele
			Rhabdomyosarcoma, alveolar
			Craniofacial–deafness–hand syndrome
203500	Homogentisate 1,2-dioxygenase	HGD	Alkaptonuria
217000	Complement component 2	C2	Complement component 2 deficiency
222600	Solute carrier family 26, member 2	SLC26A2	Achondrogenesis, type IB
			Atelosteogenesis, type II
			Diastrophic dysplasia
249100	Familial Mediterranean fever gene	MEFV	Familial Mediterranean fever
277900	ATPase, Cu(2+)-transporting,	ATP7B	Wilson Disease
	beta polypeptide
300202	Sedlin	SEDL	Spondyloepiphyseal dysplasia, late
300300	Bruton agammaglobulinemia	BTK	Agammaglobulinemia, X-linked associated with
	tyrosine kinase		septic arthritis
308000	Hypoxanthine guanine	HPRT1	Gout, HPRT-related
	phosphoribosyltransferase 1		Lesch–Nyhan syndrome
311850	Phosphoribosylpyrophosphate	PRPS1	Gout, PRPS-related
	synthetase I
312865	Short stature homeobox	SHOX	Short stature, idiopathic
			Leri–Weill dyschondrosteosis
			Langer mesomelic dysplasia
600211	Runt-related transcription factor 2	RUNX2	Cleidocranial dysplasia
600310	Cartilage oligomeric matrix protein	COMP	Epiphyseal dysplasia
			Pseudoachondroaplasia
600725	Sonic hedgehog	SHH	Holoprosencephaly 3
600726	Indian hedgehog	IHH	Brachydactyly type A1
600856	Cyclin-dependent kinase inhibitor 1C	CDKN1C	Beckwith–Wiedemann syndrome
600946	Growth hormone receptor	GHR	Laron syndrome
			Short stature, autosomal dominantand idiopathic
601105	Cathepsin K	CTSK	Pycnodysostosis
601146	Growth/differentiation factor 5	GDF5	Acromesomelic dysplasia, Hunter–Thompson type
			Brachydactyly, type C
			Chondrodysplasia, Grebe type
601199	Calcium-sensing receptor	CASR	Hypercalciuric hypercalcemia
			Hypercalciuric hypocalcemia
			Hyperparathyroidism
			Hypocalcemia
			Hypocalciuric hypercalcemia
			Hypoparathyroidism, various types
601309	Patched	PTCH	Basal cell nevus syndrome
			Basal cell carcinoma, sporadic
601769	Vitamin D receptor	VDR	Vitamin D-resistant rickets, type II
602109	Matrilin 3	MATN3	Multiple epiphyseal dysplasia
602337	Receptor tyrosine kinase-like	ROR2	Brachydactyly, type B1
	Orphan receptor 2		Robinow syndrome, autosomal recessive
602365	Cathepsin C	CTSC	Papillon–Lefevre syndrome
			Haim–Munk syndrome
602727	Chloride channel 7	CLCN7	Osteopetrosis, Autosomal Recessive, Infantile Malignant
602991	Noggin	NOG	Symphalangism, proximal
			Multiple synostoses syndrome 1
603400	Wnt1-inducible signaling	WISP3	Arthropathy, progressive pseudorheumatoid of childhood
	pathway protein 3
603499	Tumor necrosis factor receptor	TNFRSF11A	Expansile osteolysis, familial
	superfamily, 11A		Paget disease of bone 2
604142	Tyro protein tyrosine	TYROBP	Polycystic lipomembranous osteodysplasia with sclerosing
	kinase-binding protein		leukoencephalopathy
604283	Proteoglycan 4	PRG4	Camptodactyly–arthropathy–coxa vara–pericarditis syndrome
604592	T cell immune regulator 1	TCIRG1	Osteopetrosis, autosomal recessive
604831	Ellis–Van Creveld syndrome gene	EVC	Ellis-Van Creveld syndrome
			Weyers acrodental dysostosis
605145	Ank	ANKH	Craniometaphyseal dysplasia, autosomal dominant
605380	Fibroblast growth factor 23	FGF23	Hypophosphatemic rickets, autosomal dominant
605420	Aristaless-like 4,	ALX4	Parietal foramina 2
605740	Sclerostin	SOST	Sclerosteosis

Mutations in a number of genes have been shown to cause congenital skeletal disorders, often with defects in cartilage formation as the primary basis. Others predispose the individual towards skeletal diseases such as arthritis. The completed sequence of the human genome opens the door for rapid identification of additional genetic mutations associated with human diseases and disorders. Functional genomics and the characterization of molecular mechanisms bridging genotypes to phenotypes are our challenges to realize solutions for the prevention, detection, diagnosis and therapy of these diseases and disorders. Data extracted from Online Mendelian Inheritance in Man (OMIM) [113].

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ISSN: 1478-6362

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