SPATA7 gene

Overview

Gene (OMIM no.)	SPATA7 (#609868)
Function of gene/protein	Protein: Spermatogenesis-associated protein 7 Two isoforms due to alternative splicing Expressed in high levels in the brain, retina and testes Cilia protein localised at the photoreceptor connecting cilium and in the RPE Involved in RPGRIP1 localisation and protein trafficking
Clinical phenotype (OMIM phenotype no.)	Leber congenital amaurosis: Leber congenital amaurosis 3 (#604232) Retinitis pigmentosa, juvenile, autosomal recessive (#604232)
Inheritance	Autosomal recessive
Signs for LCA	Early onset visual impairment with poor visual pursuit (during infancy) Roving nystagmus Amaurotic pupils Normal appearing fundus initially Progresses to severe widespread RPE atrophy with minimal intra-retinal pigmentation Relative parafoveal preservation Optic disc pallor Vessel attenuation Keratoconus and early onset cataract reported
Signs for RP	Milder EOSRD phenotype with minimal/no nystagmus due to relatively preserved cone function initially Vessel attenuation Widespread RPE degeneration Bone-spicule pigmentation in the mid-periphery (sparse) Optic disc pallor
Visual function	LCA: Poor visual function from infancy in LCA cases VA usually worse than 6/60 (LogMAR 1.00) Severely constricted VF (central 5° on GVF) Stable/slowly progressive EOSRD: Nyctalopia during early childhood Relatively preserved VA initially Progressive VA and VF loss BCVA deteriorates to 6/60 (LogMAR 1.00) or worse over time Visual field restriction to central 5° on GVF
Systemic features	No extraocular features reported
Key investigations	ERG: absent responses/severe rod-cone dystrophy FAF: Parafoveal ring of increased AF surrounded by diffuse hypo-AF beyond the ring OCT: Preserved foveal ellipsoid zone but outer retinal loss parafoveally
Molecular diagnosis	Next generation sequencing Targeted gene panels (retinal) Whole exome sequencing Whole genome sequencing
Management	Management of LCA/EOSRD Management of RP
Therapies under research	Gene therapy experiment with adeno-associated virus in a mouse model
Further information	OMIM

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References

Eblimit A, Agrawal SA, Thomas K, et al. Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice [published correction appears in Exp Eye Res. 2018 Mar 23;171:119]. Exp Eye Res. 2018;166:120-130
Eblimit A, Agrawal SA, Thomas K, et al. Corrigendum to “Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice” [Exp. Eye Res. 166 (2018) 120-130]. Exp Eye Res. 2018;171:119
Eblimit A, Nguyen TM, Chen Y, et al. Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. Hum Mol Genet. 2015;24(6):1584-1601
Zahid S, Branham K, Schlegel D, et al. Retinal Dystrophy Gene Atlas. Springer; 2018
Mackay DS, Ocaka LA, Borman AD, et al. Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations. Invest Ophthalmol Vis Sci. 2011;52(6):3032-3038
Wang H, den Hollander AI, Moayedi Y, et al. Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa [published correction appears in Am J Hum Genet. 2010 Feb;86(2):293. Abboud, Emad B [added]; Al-Rajhi, Ali A [added]]. Am J Hum Genet. 2009;84(3):380-387
Perrault I, Hanein S, Gerard X, et al. Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat. 2010;31(3):E1241-E1250

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Updated on November 30, 2020

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