Frameshift Variant in <i>AMPD2</i> in Cirneco dell'Etna Dogs with Retinopathy and Tremors.

ABSTRACT: While the manifestations of many inherited retinal disorders are limited to loss of vision, others are part of a syndrome that affects multiple tissues, particularly the nervous system. Most syndromic retinal disorders are thought to be recessively inherited. Two dogs out of a litter of Cirneco dell' Etna dogs, both males, showed signs of retinal degeneration, along with tremors and signs described as either atypical seizures or paroxysmal dyskinesias, while the other two male littermates were normal. We named this oculo-neurological syndrome CONS (Cirneco oculo-neurological syndrome), and undertook homozygosity mapping and whole-genome sequencing to determine its potential genetic etiology. Notably, we detected a 1-bp deletion in chromosome 6 that was predicted to cause a frameshift and p

SUBMITTER: Murgiano L 

PROVIDER: S-EPMC10887799 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature