Frameshift variant in AMPD2 in Cirneco dell’ Etna with retinopathy and tremors

Many retinal conditions have non-syndromic manifestations, but many can be part of a syndrome.  The majority of these syndromic retinal disorders are thought to be recessively inherited. Several tissues are affected other than the retina, including the nervous system. A litter of four Cirneco dogs, all males, show signs of retinal degeneration, along with tremors and signs that could be described preliminarily as atypical seizures or paroxysmal dyskinesias. The other two littermates were normal. A genetic etiology for this oculo-neurological syndrome was suspected, which we named CONS (Cirneco Oculo-neurological syndrome). Homozygosity mapping and whole-genome sequencing detected in CFA6 a 1-bp deletion in the canine AMPD2, an adenosine monophosphate deaminase converting adenosine 5'-monophosphate (AMP) and to inosine 5'-monophosphate (IMP), causing a frameshift and premature stop codon. Genotyping of the available Cirneco population suggests perfect segregation between cases and contro..., SNPdata: genotype data Type from 220k CanineHD array (Illumina). DNA was extracted from blood and processed by Neogen.
NovaSeq6000 paired-end reads (2x100 bp)  whole genome sequencing (as for company instructions). The PCR-free library was prepared as follows. Libraries of 300 bp insert size were prepared and Illumina NovaSeq6000 paired-end reads (2 × 100 bp) were collected. Fastq files were generated using Casava 1.8. A total of 1,521,125,559 reads (100 bp paired-end reads) were collected in total for the sequenced dogs (corresponding to an approximate average coverage of the genome of 32× for VB260 and 45× for V259., , # Frameshift variant in AMPD2 in Cirneco dell’ Etna with retinopathy and tremors

[https://doi.org/10.5061/dryad.z08kprrk6](https://doi.org/10.5061/dryad.z08kprrk6)

Whole Genome Sequencing - 2 cases of Cirneco dog (*Canis lupus familiaris)* affected with a retinal and neurological syndrome (CONS). Paired-end, 300bp, Illumina novaseq6000. Compatible with whole-genome mappers like bwa.

VB259_R1.fastq.gz
VB259_R2.fastq.gz
VB260_R1.fastq.gz
VB260_R2.fastq.gz

SNP chip genotyping - cases and controls marked as plink document (transposed format). Two cases of whole genome sequenced (see other part of the submission) are also contained here. 

CIRN_PENN.tfam
CIRN_PENN.tped

## Data details

The fastq.gz are gzipped fastq files. Definition (wiki): \"FASTQ format is a text-based format for storing both a biological sequence (usually nucleotide sequence) and its corresponding quality scores. Both the sequence letter and quality score are each encoded with a single ASCII character for brevity.\" M...