Schwere Kette 1 des zytoplasmatischen Dyneins
Das DYNC2H1-Gen kodiert ein Dynein, welches für den intraflagellären Transport verantwortlich ist. Mutationen verursachen das autosomal rezessive oder digenisch rezessive SRTD-Syndrom 3.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Merrill AE et al. (2009) Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.
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2. |
Schmidt H et al. (2015) Structure of human cytoplasmic dynein-2 primed for its power stroke.
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3. |
Ocbina PJ et al. (2011) Complex interactions between genes controlling trafficking in primary cilia.
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4. |
Pazour GJ et al. (2006) Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes.
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5. |
Criswell PS et al. (1998) Evidence for four cytoplasmic dynein heavy chain isoforms in rat testis.
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6. |
Kastury K et al. (1997) Chromosomal mapping of two members of the human dynein gene family to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11.
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7. |
Criswell PS et al. (1996) A novel cytoplasmic dynein heavy chain: expression of DHC1b in mammalian ciliated epithelial cells.
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8. |
Vaughan KT et al. (1996) Multiple mouse chromosomal loci for dynein-based motility.
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9. |
Vaisberg EA et al. (1996) Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles.
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10. |
Gibbons BH et al. (1994) Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins.
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11. |
Schmidts M et al. (2013) Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.
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12. |
Thiel C et al. (2011) NEK1 mutations cause short-rib polydactyly syndrome type majewski.
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13. |
Dagoneau N et al. (2009) DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.
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14. |
El Hokayem J et al. (2012) NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
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15. |
NCBI article
NCBI 79659
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16. |
OMIM.ORG article
Omim 603297
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17. |
Orphanet article
Orphanet ID 183938
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Update: 14. August 2020