Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Spermatogenesis-associated protein 7

The SPATA7 gene encodes a protein expressed in testis and retina. Mutations cause autosomal recessive Leber congenital amaurosis type 3.

Genetests:

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

Related Diseases:

Leber congenital amaurosis 03
SPATA7

References:

1.

Li Y et al. (2009) Mutation survey of known LCA genes and loci in the Saudi Arabian population.

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2.

Wang H et al. (2009) Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.

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3.

Mackay DS et al. (2011) Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.

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4.

Zhang X et al. (2003) A novel gene, RSD-3/HSD-3.1, encodes a meiotic-related protein expressed in rat and human testis.

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5.

Orphanet article

Orphanet ID 178826 [^]
6.

NCBI article

NCBI 55812 [^]
7.

OMIM.ORG article

Omim 609868 [^]
8.

Wikipedia article

Wikipedia EN (SPATA7) [^]
Update: April 29, 2019