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.


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 03



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


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


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


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

Update: Sept. 26, 2018