Campomelic dysplasia

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Campomelic dysplasia
Classification and external resources
OMIM	114290
DiseasesDB	33419

Camptomelic dysplasia is a genetic disorder, camptomelic or campomelic refer to the bowing of the femur and tibia, (from Greek campto, to bend and melos, limb), commonly seen in this disorder.

A mutation in the gene coding for the transcription factor Sox9, localized to chromosome 17, results in camptomelic dysplasia, which is marked by anomalies of the ribs and vertebral column and bowing of the long bones. Sox9 controls transcription of Type II collagen^[1]^[2] and the proteoglycan aggrecan, and is also related to sex reversal. Genetically male (XY) individuals appear phenotypically female, because SOX9 is not able to fulfill its role in sex determination (testis development).

References

↑ Lefebvre, V; Huang, W; Harley, VR; Goodfellow, PN; De Crombrugghe, B (1997). "SOX9 is a potent activator of the chondrocyte-specific enhancer of the pro alpha1(II) collagen gene". Molecular and Cellular Biology 17 (4): 2336–46. PMC 232082. PMID 9121483.
↑ Ng, LJ; Wheatley, S; Muscat, GE; Conway-Campbell, J; Bowles, J; Wright, E; Bell, DM; Tam, PP et al. (1997). "SOX9 binds DNA, activates transcription, and coexpresses with type II collagen during chondrogenesis in the mouse". Developmental biology 183 (1): 108–21. doi:10.1006/dbio.1996.8487. PMID 9119111. |displayauthors= suggested (help)

External links

v t e Genetic disorder, protein biosynthesis: Transcription factor/coregulator deficiencies

(1) Basic domains	1.2: Feingold syndrome · Saethre–Chotzen syndrome 1.3: Tietz syndrome

(2) Zinc finger DNA-binding domains	2.1 (Intracellular receptor): Thyroid hormone resistance · Androgen insensitivity syndrome (PAIS, MAIS, CAIS) · Kennedy's disease · PHA1AD pseudohypoaldosteronism · Estrogen insensitivity syndrome · X-linked adrenal hypoplasia congenita · MODY 1 · Familial partial lipodystrophy 3 · SF1 XY gonadal dysgenesis 2.2: Barakat syndrome · Tricho–rhino–phalangeal syndrome 2.3: Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome · Denys–Drash syndrome · Duane-radial ray syndrome · MODY 7 · MRX 89 · Townes–Brocks syndrome · Acrocallosal syndrome · Myotonic dystrophy 2 2.5: Autoimmune polyendocrine syndrome type 1

(3) Helix-turn-helix domains	3.1: ARX (Ohtahara syndrome, Lissencephaly X2) · HLXB9 (Currarino syndrome) · HOXD13 (SPD1 Synpolydactyly) · IPF1 (MODY 4) · LMX1B (Nail–patella syndrome) · MSX1 (Tooth and nail syndrome, OFC5) · PITX2 (Axenfeld syndrome 1) · POU4F3 (DFNA15) · POU3F4 (DFNX2) · ZEB1 (Posterior polymorphous corneal dystrophy 3, Fuchs' dystrophy 3) · ZEB2 (Mowat–Wilson syndrome) 3.2: PAX2 (Papillorenal syndrome) · PAX3 (Waardenburg syndrome 1&3) · PAX4 (MODY 9) · PAX6 (Gillespie syndrome, Coloboma of optic nerve) · PAX8 (Congenital hypothyroidism 2) · PAX9 (STHAG3) 3.3: FOXC1 (Axenfeld syndrome 3, Iridogoniodysgenesis, dominant type) · FOXC2 (Lymphedema–distichiasis syndrome) · FOXE1 (Bamforth–Lazarus syndrome) · FOXE3 (Anterior segment mesenchymal dysgenesis) · FOXF1 (ACD/MPV) · FOXI1 (Enlarged vestibular aqueduct) · FOXL2 (Premature ovarian failure 3) · FOXP3 (IPEX) 3.5: IRF6 (Van der Woude syndrome, Popliteal pterygium syndrome)

(4) β-Scaffold factors with minor groove contacts	4.2: Hyperimmunoglobulin E syndrome 4.3: Holt–Oram syndrome · Li–Fraumeni syndrome · Ulnar–mammary syndrome 4.7: Campomelic dysplasia · MODY 3 · MODY 5 · SF1 (SRY XY gonadal dysgenesis, Premature ovarian failure 7) · SOX10 (Waardenburg syndrome 4c, Yemenite deaf-blind hypopigmentation syndrome) 4.11: Cleidocranial dysostosis

(0) Other transcription factors	0.6: Kabuki syndrome

Ungrouped	TCF4 (Pitt–Hopkins syndrome) · ZFP57 (TNDM1) · TP63 (Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary syndrome/OFC8)

Transcription coregulators	Coactivator: CREBBP (Rubinstein–Taybi syndrome) Corepressor: HR (Atrichia with papular lesions)

See also transcription factors B structural perx skel cili mito nucl sclr DNA/RNA/protein synthesis drep trfc tscr tltn membrane icha slcr atpa abct othr transduction iter csrc itra trfk

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