Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Noggin

Das NOG-Gen kodiert eine Signalprotein, welches eine Bedeutung für die Morphogenese besitzt. Mutationen führen zu verschiedenen autosomal dominanten synostotischen Fehlbildungen des Skelettsystems.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Brachydaktylie Typ B2
NOG
Multiple Synostosen 1
NOG
Stapesankylose mit breiten Daumen und Zehen
NOG
Proximaler Symphalangismus 1A
NOG
Tarsal-Karpal-Fusions-Syndrom
NOG

Referenzen:

1.

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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2.

Tucker AS et. al. (1998) Transformation of tooth type induced by inhibition of BMP signaling.

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3.

Furuta Y et. al. (1998) BMP4 is essential for lens induction in the mouse embryo.

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4.

Groppe J et. al. (2002) Structural basis of BMP signalling inhibition by the cystine knot protein Noggin.

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5.

Jamora C et. al. (2003) Links between signal transduction, transcription and adhesion in epithelial bud development.

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6.

Warren SM et. al. (2003) The BMP antagonist noggin regulates cranial suture fusion.

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7.

Dawson K et. al. (2006) GDF5 is a second locus for multiple-synostosis syndrome.

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8.

Gaal SA et. al. (1987) Symphalangism and its introduction into Hawaii: a pedigree.

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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.

Higashi K et. al. (1983) Conductive deafness, symphalangism, and facial abnormalities: the WL syndrome in a Japanese family.

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11.

Polymeropoulos MH et. al. (1995) Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22.

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12.

Valenzuela DM et. al. (1995) Identification of mammalian noggin and its expression in the adult nervous system.

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13.

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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14.

Brunet LJ et. al. (1998) Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton.

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15.

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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16.

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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17.

Gong Y et. al. (1999) Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.

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18.

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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19.

Bachiller D et. al. (2000) The organizer factors Chordin and Noggin are required for mouse forebrain development.

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20.

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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21.

Trousse F et. al. (2001) Bmp4 mediates apoptotic cell death in the developing chick eye.

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22.

Sémonin O et al. (2001) Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva.

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23.

Dixon ME et. al. () Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism.

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24.

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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25.

Takahashi T et. al. (2001) Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.

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26.

Mangino M et. al. (2002) Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism.

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27.

Xu MQ et al. (2002) Reported noggin mutations are PCR errors.

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28.

Warman ML et al. (2002) Significant difference of opinion regarding the role of noggin in fibrodysplasia ossificans progressiva.

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29.

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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30.

Wu XB et. al. (2003) Impaired osteoblastic differentiation, reduced bone formation, and severe osteoporosis in noggin-overexpressing mice.

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31.

Winkler DG et. al. (2004) Noggin and sclerostin bone morphogenetic protein antagonists form a mutually inhibitory complex.

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32.

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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33.

Fontaine K et al. (2005) A new mutation of the noggin gene in a French Fibrodysplasia ossificans progressiva (FOP) family.

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34.

None (1916) Hereditary Anchylosis of the Proximal Phalan-Geal Joints (Symphalangism).

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35.

Wan DC et. al. (2007) Noggin suppression enhances in vitro osteogenesis and accelerates in vivo bone formation.

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36.

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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37.

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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38.

Hwang CH et. al. (2008) Noggin heterozygous mice: an animal model for congenital conductive hearing loss in humans.

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39.

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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40.

Rudnik-Schöneborn S et. al. (2010) Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation.

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Update: 31. März 2018