OMIA:002533-9685 : Osteogenesis imperfecta, CREB3L1-elated in Felis catus
Categories: Skeleton phene (incl. short stature & teeth)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2022
Inheritance: Having no access to cats related to the affected kitten born to a stray cat, Takanosu and Kagawa (2022) rightly point out that "we cannot conclude that this disease is inherited." However, as they explain, available evidence (homozygosity for the likely causal variant; mutations in this same gene cause similar inherited disorders in humans and in mice) strongly supports autosomal recessive inheritance.
Molecular basis: Takanosu and Kagawa (2022) described a kitten born to a stray cat in Japan. Having diagnosed the kitten as being affected with osteogenesis imperfecta, the authors performed a whole-genome sequence and then searched for mutations in comparative (human) candidate genes, finding just one likely causal variant, namely a "2-bp deletion in exon 3 of CREB3L1 (c.370_371delTG). This mutation was detected in all sequenced contigs except for the vector end, which indicated homozygosity . . . . The 2-bp deletion mutation caused a frameshift and induced a premature stop codon. (p.C124fs). Sequencing of the PCR product from RT-PCR revealed a 2-bp deletion in the cDNA of CREB3L1 . . . as well."
Clinical features: Takanosu and Kagawa (2022): "Blood and radiographic examinations were performed on presentation. Radiographs revealed decreased opacity of numerous bones. Fractures were observed in some long bones, including femur and tibia."
Pathology: Takanosu and Kagawa (2022): "Histologic examination of the tibia showed decreased osteoid and osteoblasts at the primary spongiosa extending from the growth plate. The periosteum was thickened, and cortical bone and osteoblasts were decreased. Consequently, osteogenesis imperfecta was diagnosed."
Prevalence: Not having access to any family samples from the affected stray cat, Takanosu and Kagawa (2022) genotyped 136 normal cats, none of which carried the likely causal variant.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CREB3L1||cAMP responsive element binding protein 3-like 1||Felis catus||D1||NC_058377.1 (98361436..98396751)||CREB3L1||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1428||Domestic Shorthair||Osteogenesis imperfecta||CREB3L1||deletion, small (<=20)||Naturally occurring variant||Felis_catus_9.0||D1||g.100436508_100436509del||c.370_371del||p.(C124Lfs)||XM_003993204.4; XP_003993253.1; published as c.370_371delTG||2022||35168412|
Cite this entry
|2022||Takanosu, M., Kagawa, Y. :|
|Severe osteogenesis imperfecta caused by CREB3L1 mutation in a cat. J Vet Diagn Invest :10406387221081227, 2022. Pubmed reference: 35168412 . DOI: 10.1177/10406387221081227.|
- Changed by Frank Nicholas on 24 Feb 2022
- Created by Frank Nicholas on 24 Feb 2022
- Changed by Frank Nicholas on 25 Feb 2022