Categories: Vision / eye phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 606996 (trait) , 607215 (gene)

Links to MONDO diseases:

• MONDO:0011756: Senior-Loken syndrome 4

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2008

Cross-species summary: In 2012, this disorder had been renamed in OMIA as 'Cone-rod dystrophy, Standard Wire-haired Dachshund' on the basis of the review by Miyadera et al. (2012). While this name is used in dogs a cross-species phene name 'Cone-rod dystrophy, NPHP4-related' was introduced in 2023 [08/06/2023].

Species-specific name: Cone-rod dystrophy, standard Wire-haired dachshund; progressive retinal atrophy crd SWD

Species-specific symbol: CRD^SWHD

Mapping: Wiik et al. (2008) conducted a GWAS on 13 affected and 13 control Standard Wire-Haired Dachshunds, each genotyped with the Affymetrix version 2 Dog SNP (yielding 49,663 informative SNPs for analysis). They reporte that "For the first time, we use genome-wide association-based Sibling Transmission Disequilibrium Test (sibTDT) analysis of only 13 discordant sib-pairs to identify a single significantly associated 6.5-Mb region (PrawTDT = 4.8 × 10−5, PgenomeTDT = 6 × 10−4) on canine chromosome 5, containing more than 70 genes".

Molecular basis: Sequencing of positional candidate genes in the CFA5 region (see Mapping section) by Wiik et al. (2008) "identified a 180-bp deletion in exon/intron 5 of NPHP4 (nephronophthisis 4, also known as nephroretinin)".

Palánová et al. (2014) "analyzed all varieties of Dachshunds from the Czech Republic and five other dog breeds and found that the deletion in the NPHP4 (in heterozygous state) is present not only in standard-, but also in miniature wire-haired Dachshunds, but not in other varieties of Dachshunds or in other breeds."

Breeds: Miniature Wirehaired Dachshund, Standard wire-haired dachshund.

Associated gene: