AGBL5 gene

Overview

Gene (OMIM No.)	AGBL5 (#615900)
Function of gene/protein	Protein: ATP/GTP binding protein-like 5 Removal of glutamate residues from tubulin and other protein substrates Tubulin in a central component of microtubules in the photoreceptor connecting cilium
Clinical phenotype (OMIM phenotype no.)	Autosomal recessive retinitis pigmentosa: Retinitis pigmentosa 75 (#617023)
Inheritance	Autosomal recessive
Signs	Vessel attenuation Mid-peripheral bone spicule pigmentation of variable density with progressive RPE atrophy Macular RPE mottling or atrophy Optic disc pallor Cystoid macular oedema may be present Early onset posterior subcapsular cataract
Visual function	Onset of nyctalopia and/or peripheral VF loss usually in the 1st to 2nd decade of life Progressive VA and VF loss
Systemic features	Some reported patients have learning difficulties No other extraocular features suggestive of syndromic RP
Key investigations	Full field ERG: Rod-cone dystrophy or generally reduced rod and cone responses FAF: Parafoveal ring of increased/decreased AF with mid-peripheral hypo-AF (correlates with RPE atrophy) OCT: Progressive outer retinal loss with inner nuclear layer cysts
Molecular diagnosis	Next generation sequencing Targeted gene panels (retinal) Whole exome sequencing Whole genome sequencing
Management	Ocular Management of RP
Therapies under research	None at present
Further information	OMIM

Rogowski, K., Van Dijk, J., Magiera, M.M., Bosc, C., Deloulme, J.-C., Bosson, A., Peris, L., Gold, N.D., Lacroix, B., Grau, M.B., Bec, N., Larroque, C., Desagher, S., Holzer, M., Andrieux, A., Moutin, M.-J. & Janke, C. (2010) A Family of Protein-Deglutamylating Enzymes Associated with Neurodegeneration. Cell, 143 (4), p.564–578
Astuti, G.D.N., Arno, G., Hull, S., Pierrache, L., Venselaar, H., Carss, K., Raymond, F.L., Collin, R.W.J., Faradz, S.M.H., Van Den Born, L.I., Webster, A.R. & Cremers, F.P.M. (2016) Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa. Investigative Opthalmology & Visual Science, 57 (14), p.6180
Kastner, S., Thiemann, I.-J., Dekomien, G., Petrasch-Parwez, E., Schreiber, S., Akkad, D.A., Gerding, W.M., Hoffjan, S., Günes, S., Günes, S., Bagci, H. & Epplen, J.T. (2015) Exome Sequencing RevealsAGBL5as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families. Investigative Opthalmology & Visual Science, 56 (13), p.8045
Branham K, Matsui H, Biswas P, et al. Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing. Physiol Genomics. 2016;48(12):922-927

Updated on November 30, 2020

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