SPATA7 – SPATA7-associated Retinitis Pigmentosa

Autosomal recessive SPATA7 variants underlie a spectrum of retinitis pigmentosa (RP) characterized by early-onset nyctalopia and progressive peripheral visual field loss. To date, three unrelated probands with biallelic SPATA7 mutations have been described: a 63-year-old man with compound heterozygous c.1100A>G (p.Tyr367Cys) and c.1102_1103del (p.Leu368GlufsTer4) variants presenting with severe rod-cone dysfunction and choroideremia-like changes over two years (PMID:29411205); a consanguineous Pakistani family with a novel homozygous frameshift in SPATA7 segregating with night blindness (PMID:36140798); and a European pericentral RP cohort in which SPATA7 mutations were identified among 22 of 35 families screened (PMID:31877679).

All reported alleles are predicted loss-of-function (nonsense or frameshift) consistent with a recessive haploinsufficiency mechanism. No dedicated functional assays or animal models for SPATA7 have yet been published, limiting mechanistic confirmation. Additional functional studies are warranted to establish genotype–phenotype correlations and to support therapeutic development. Taken together, current evidence supports a Limited clinical validity between SPATA7 and autosomal recessive RP.

References

• Documenta ophthalmologica. Advances in ophthalmology • 2018 • Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa. PMID:29411205
• Genes • 2022 • Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families. PMID:36140798
• International journal of molecular sciences • 2019 • Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa. PMID:31877679

Evidence Based Scoring (AI generated)