Intraflagellares Transportprotein 122 homolog
Das IFT122-Gen kodiert ein WD-repeat protein, welches an der Funktion von Zilien beteiligt ist. Mutationen führen zu autosomal rezessiver cranioektodermaler Dysplasie 1.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Zaffanello M et al. (2006) Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family.
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2. |
Fry AE et al. (2009) Connective tissue involvement in two patients with features of cranioectodermal dysplasia.
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3. |
Walczak-Sztulpa J et al. (2010) Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
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4. |
Claudio JO et al. (1999) Cloning and expression analysis of a novel WD repeat gene, WDR3, mapping to 1p12-p13.
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5. |
Gross C et al. (2001) Cloning and characterization of human WDR10, a novel gene located at 3q21 encoding a WD-repeat protein that is highly expressed in pituitary and testis.
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6. |
Orphanet article
Orphanet ID 235207
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7. |
NCBI article
NCBI 55764
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8. |
OMIM.ORG article
Omim 606045
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Update: 14. August 2020