Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Lebercilin

The LCA5 gene encodes Lebercilin a protein involved in centrosomal or ciliary functions. Mutations cause autosomal recessive Leber congenital amaurosis type 5.

Genetests:

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
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Leber congenital amaurosis 05
LCA5

References:

1.

Coene KL et. al. (2009) OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

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2.

Dharmaraj S et. al. (2000) A novel locus for Leber congenital amaurosis maps to chromosome 6q.

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3.

Mohamed MD et. al. (2003) Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.

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4.

Zernant J et. al. (2005) Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.

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5.

den Hollander AI et. al. (2007) Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.

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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.

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Update: Sept. 26, 2018