Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The LCA5 gene encodes Lebercilin a protein involved in centrosomal or ciliary functions. Mutations cause autosomal recessive Leber congenital amaurosis type 5.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Coene KL et al. (2009) OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. 
|
| 2. |
Zernant J et al. (2005) Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.
|
| 3. |
Dharmaraj S et al. (2000) A novel locus for Leber congenital amaurosis maps to chromosome 6q.
|
| 4. |
Mohamed MD et al. (2003) Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.
|
| 5. |
den Hollander AI et al. (2007) Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
|
| 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.
|
| 7. |
NCBI article NCBI 167691
|
| 8. |
OMIM.ORG article Omim 611408
|
| 9. |
Orphanet article Orphanet ID 140526
|
| 10. |
Wikipedia article Wikipedia EN (LCA5)
|
 |
Copyright © 2005-2025 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits |
