OMIA 001675-61379 : Cone-rod dystrophy 2 in Felis nigripes

In other species: dog

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 609237 , 204000

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2017

Cross-species summary: This disorder has been named in OMIA on the basis of the review by Miyadera et al. (2012)

Molecular basis: Oh et al (2017); '2 base pair (bp) deletion in exon 13 (c.1282delCT) . . . p.L428*'

Clinical features: Oh et al. (2017); 'The diagnosis of early-onset progressive retinal atrophy (PRA) was supported by reduced direct and consensual pupillary light reflexes, phenotypic presence of retinal degeneration, and a non-recordable electroretinogram with negligible amplitudes in both eyes.'

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
IQCB1 IQ motif containing B1 Felis catus C2 NC_018731.3 (67734094..67671348) IQCB1 Homologene, Ensembl, NCBI gene

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Cone-rod dystrophy 2 IQCB1 deletion, small (<=20) c.1282delCT p.L428* 2017 28322220

Reference


2017 Oh, A., Pearce, J.W., Gandolfi, B., Creighton, E.K., Suedmeyer, W.K., Selig, M., Bosiack, A.P., Castaner, L.J., Whiting, R.E., Belknap, E.B., Lyons, L.A. :
Early-Onset Progressive Retinal Atrophy Associated with an IQCB1 Variant in African Black-Footed Cats (Felis nigripes). Sci Rep 7:43918, 2017. Pubmed reference: 28322220. DOI: 10.1038/srep43918.

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  • Created by Bianca Waud on 24 Mar 2017