Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Tubby-related protein 1

The TULP1 gene encodes a photoreceptor specific protein. Mutations cause autosomal recessive Leber congenital amaurosis type 15.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Leber congenital amaurosis 15
TULP1

References:

1.

Kondo H et. al. (2004) A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.

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2.

Knowles JA et. al. (1994) Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p.

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3.

North MA et. al. (1997) Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases.

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4.

Hagstrom SA et. al. (1998) Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa.

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5.

Banerjee P et. al. (1998) TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa.

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6.

Lewis CA et. al. (1999) Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.

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7.

Ikeda S et. al. (2000) Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene.

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8.

Paloma E et. al. (2000) Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa.

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9.

Hanein S et. al. (2004) Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.

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10.

den Hollander AI et. al. (2007) Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.

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11.

Mataftsi A et. al. (2007) Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.

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12.

den Hollander AI et. al. (2007) Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

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Update: Sept. 26, 2018