WD-Repeat-Protein 19
Das Gen WDR19 kodiert ein ciliäres Protein was für den intraflaggelären Transport verantwortlich zu sein scheint. Mutationen in diesem Gen sind für verschiedene autosomal rezessive Krankheitszustände verantwortlich: Nephronophthise 13 und Senior-Loken-Syndroms 8.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Bredrup C et al. (2011) Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
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2. |
Halbritter J et al. (2013) Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
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3. |
Coussa RG et al. (2013) WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.
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4. |
de Vries J et al. (2010) Jeune syndrome: description of 13 cases and a proposal for follow-up protocol.
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5. |
Lin B et al. (2003) Isolation and characterization of human and mouse WDR19,a novel WD-repeat protein exhibiting androgen-regulated expression in prostate epithelium.
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6. |
NCBI article
NCBI 57728
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7. |
OMIM.ORG article
Omim 608151
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8. |
Orphanet article
Orphanet ID 285468
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Update: 14. August 2020