Categories: Reproductive system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 618304 (gene) , 618341 (trait)

Links to relevant human diseases in MONDO:

• MONDO:0032686: spermatogenic failure 35

Mendelian trait/disorder: yes

Mode of inheritance: Probably autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2022

Species-specific name: low sperm count and immotile sperm with multiple morphological abnormalities

Molecular basis: Hiltpold et al. (2022) investigated a Brown Swiss bull with low semen quality: "The genome of this bull was sequenced at a 12× coverage to investigate a possible genetic cause. Comparing the sequence variant genotypes of this bull with those from 397 fertile bulls revealed a 1-bp deletion in the coding sequence of the QRICH2 gene which encodes the glutamine rich 2 protein, as a compelling candidate causal variant. This 1-bp deletion causes a frameshift in translation and a premature termination codon (ENSBTAP00000018337.1:p.Cys1644AlafsTer52) [omia.variant:1689]." A second bull that carried the 1-bp deletion in the homozygous state also presented with low semen quality.

Clinical features: Hiltpold et al. (2022) reported that the two affected bulls presented with "low sperm concentration and immotile sperm with multiple morphological abnormalities that primarily affect the sperm flagellum and, to a lesser extent, the sperm head."

Breed: Brown Swiss (Cattle) (VBO_0000166).
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: