Dynein schwere Kette 5
Das DNAH5-Gen kodiert eine Motorprotein welches für am ziliären transport beteiligt ist. Mutationen führen zur autosomal rezessiven ziliäre Dyskinesie 3, welche mit oder ohne Situs inversus auftreten kann.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Vaughan KT et al. (1996) Multiple mouse chromosomal loci for dynein-based motility.
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2. |
Omran H et al. (2000) Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene.
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3. |
Olbrich H et al. (2002) Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.
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4. |
Ibañez-Tallon I et al. (2002) Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus.
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5. |
Tan SY et al. (2007) Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia.
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6. |
Failly M et al. (2009) Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.
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7. |
Knowles MR et al. (2013) Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
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8. |
Chapelin C et al. (1997) Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment.
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9. |
Ibañez-Tallon I et al. (2003) To beat or not to beat: roles of cilia in development and disease.
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10. |
Ibañez-Tallon I et al. (2004) Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation.
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11. |
Orphanet article
Orphanet ID 121137
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12. |
NCBI article
NCBI 1767
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13. |
OMIM.ORG article
Omim 603335
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Update: 14. August 2020