Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The DYNC2LI1 gene encodes a microtubular motor protein trat is involved in retrograde transport in primary cilia. Mutations cause autosomal recessive Short-rib thoracic dysplasia with or without polydactyly 15.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Taylor SP et al. (2015) Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. 
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| 2. |
Kessler K et al. (2015) DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.
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| 3. |
Grissom PM et al. (2002) Identification of a novel light intermediate chain (D2LIC) for mammalian cytoplasmic dynein 2.
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| 4. |
Mikami A et al. (2002) Molecular structure of cytoplasmic dynein 2 and its distribution in neuronal and ciliated cells.
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| 5. |
Perrone CA et al. (2003) A novel dynein light intermediate chain colocalizes with the retrograde motor for intraflagellar transport at sites of axoneme assembly in chlamydomonas and Mammalian cells.
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| 6. |
Orphanet article Orphanet ID 474406
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| 7. |
NCBI article NCBI 51626
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| 8. |
OMIM.ORG article Omim 617083
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