Lebercilin
Das LCA5-Gen kodiert ein Protein, welches in der Zentrosomen- und Zilienfunktion beteiligt ist. Mutationen verursachen autosomal rezessive Lebersche kongenitale Amaurose Typ 5.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Coene KL et al. (2009) OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
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2. |
Zernant J et al. (2005) Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.
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3. |
Dharmaraj S et al. (2000) A novel locus for Leber congenital amaurosis maps to chromosome 6q.
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4. |
Mohamed MD et al. (2003) Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.
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5. |
den Hollander AI et al. (2007) Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
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6. |
van Wijk E et al. (2009) Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.
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7. |
NCBI article
NCBI 167691
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8. |
OMIM.ORG article
Omim 611408
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9. |
Orphanet article
Orphanet ID 140526
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Update: 14. August 2020