Noggin
Das NOG-Gen kodiert eine Signalprotein, welches eine Bedeutung für die Morphogenese besitzt. Mutationen führen zu verschiedenen autosomal dominanten synostotischen Fehlbildungen des Skelettsystems.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Valenzuela DM et al. (1995) Identification of mammalian noggin and its expression in the adult nervous system.
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2. |
Wan DC et al. (2007) Noggin suppression enhances in vitro osteogenesis and accelerates in vivo bone formation.
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3. |
Rudnik-Schöneborn S et al. (2010) Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation.
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4. |
Milunsky J et al. (1999) Congenital stapes ankylosis, broad thumbs, and hyperopia: report of a family and refinement of a syndrome.
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5. |
Trousse F et al. (2001) Bmp4 mediates apoptotic cell death in the developing chick eye.
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6. |
Brown DJ et al. (2002) Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.
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7. |
Hirshoren N et al. () P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes.
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8. |
Polymeropoulos MH et al. (1995) Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22.
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9. |
Drawbert JP et al. (1985) Tarsal and carpal coalition and symphalangism of the Fuhrmann type. Report of a family.
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10. |
Dixon ME et al. () Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism.
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11. |
Furuta Y et al. (1998) BMP4 is essential for lens induction in the mouse embryo.
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12. |
McMahon JA et al. (1998) Noggin-mediated antagonism of BMP signaling is required for growth and patterning of the neural tube and somite.
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13. |
Brunet LJ et al. (1998) Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton.
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14. |
Gazzerro E et al. (1998) Bone morphogenetic proteins induce the expression of noggin, which limits their activity in cultured rat osteoblasts.
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15. |
Bachiller D et al. (2000) The organizer factors Chordin and Noggin are required for mouse forebrain development.
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16. |
Marcelino J et al. (2001) Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein binding.
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17. |
Mangino M et al. (2002) Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism.
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18. |
Wu XB et al. (2003) Impaired osteoblastic differentiation, reduced bone formation, and severe osteoporosis in noggin-overexpressing mice.
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19. |
Winkler DG et al. (2004) Noggin and sclerostin bone morphogenetic protein antagonists form a mutually inhibitory complex.
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20. |
Hwang CH et al. (2008) Noggin heterozygous mice: an animal model for congenital conductive hearing loss in humans.
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21. |
van den Ende JJ et al. (2005) The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene.
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22. |
Shore EM et al. (2006) A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.
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23. |
Tucker AS et al. (1998) Transformation of tooth type induced by inhibition of BMP signaling.
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24. |
Groppe J et al. (2002) Structural basis of BMP signalling inhibition by the cystine knot protein Noggin.
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25. |
Jamora C et al. (2003) Links between signal transduction, transcription and adhesion in epithelial bud development.
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26. |
Warren SM et al. (2003) The BMP antagonist noggin regulates cranial suture fusion.
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27. |
Dawson K et al. (2006) GDF5 is a second locus for multiple-synostosis syndrome.
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28. |
Lehmann K et al. (2007) A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.
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29. |
Lucotte G et al. (1999) A de novo heterozygous deletion of 42 base-pairs in the noggin gene of a fibrodysplasia ossificans progressiva patient.
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30. |
Xu MQ et al. (2000) Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP).
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31. |
Sémonin O et al. (2001) Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva.
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32. |
Xu MQ et al. (2002) Reported noggin mutations are PCR errors.
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33. |
None (2002) Significant difference of opinion regarding the role of noggin in fibrodysplasia ossificans progressiva.
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34. |
Fontaine K et al. (2005) A new mutation of the noggin gene in a French Fibrodysplasia ossificans progressiva (FOP) family.
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35. |
Lucotte G et al. (2007) Mutations of the noggin and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP).
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36. |
Gaal SA et al. (1987) Symphalangism and its introduction into Hawaii: a pedigree.
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37. |
Higashi K et al. (1983) Conductive deafness, symphalangism, and facial abnormalities: the WL syndrome in a Japanese family.
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38. |
Gong Y et al. (1999) Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.
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39. |
Takahashi T et al. (2001) Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.
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40. |
None (1916) Hereditary Anchylosis of the Proximal Phalan-Geal Joints (Symphalangism).
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41. |
Orphanet article
Orphanet ID 123854
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42. |
NCBI article
NCBI 9241
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43. |
OMIM.ORG article
Omim 602991
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Update: 14. August 2020