APOB-associated cholesterol deficiency in Holstein cattle is not a simple recessive disease.

In 2015, cholesterol deficiency (CD) was reported for the first time as a new recessive defect in Holstein cattle. After GWAS mapping and identification of a disease-associated haplotype, a causative loss-of-function variant in APOB was identified. CD-clinically affected APOB homozygotes showed poor development, intermittent diarrhea and hypocholesterolemia and, consequently, a limited life expectation.

A de novo germline mutation of DLX3 in a Brown Swiss calf with tricho-dento-osseus-like syndrome.

Objective: A novel congenital disorder affecting a calf was observed, and its phenotype and genetic mutation identified.

Animal: A six-month-old female Brown Swiss calf.

Methods: Diagnostic investigation and whole genome sequencing of a case parent trio was performed.