Categories: Vision / eye phene , Haematopoietic system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 617048 (gene) , 617052 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2024

Species-specific name: Canine congenital microphthalmos with hematopoietic defects

Mapping: Murgiano et al. (2024): "Genome-wide association study and homozygosity mapping detected a 2 Mb candidate region on canine chromosome 4."

Molecular basis: Murgiano et al. (2024): "Whole-genome sequencing and mapping against the Canfam4 reference revealed a Short interspersed element insertion in exon 2 of the DNAJC1 gene (g.74,274,883ins[T70]TGCTGCTTGGATT). Subsequent real-time PCR-based mass genotyping of a larger Portuguese water dog population found that the homozygous mutant genotype was perfectly associated with the Canine Congenital Microphthalmos with Hematopoietic Defects phenotype."

Clinical features: Murgiano et al. (2024) report a syndromic disorder characterized by microphthalmia, tooth enamel malformations, stunted growth, anemia, and thrombocytopenia in the Portuguese water dog.

Breed: Portuguese Water Dog (Dog) (VBO_0201077).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: