Beta mannosidosis and Mucopolysaccharidosis IIID are two autosomal recessive lysosomal storage diseases identified in Anglo-Nubian goats. Even though they are well characterized from the clinical and molecular point of view, there is a gap in studies aiming to understand distribution and dissemination risk in goat populations throughout the world. Considering this, we developed probe-based qPCR tests and combined it with pedigree analysis to deepen the knowledge related to the distribution of both mutations in Brazilian Anglo-Nubian population. This study revealed, for the first time, that the mutation associated with Mucopolysaccharidosis IIID is segregating in our country, expanding the knowledge of the worldwide distribution of this disease-associated allele. Additionally, the combination of genotyping and pedigree analysis enabled the estimation of additional high-confidence putative genotypes, contributing to the reduction of genotyping costs and highlighting a putative pathway associated with the introduction/dissemination of the Mucopolysaccharidosis IIID-associated allele in Brazil. These results can be considered as an initial basis for the proposition of a program to control/eradicate mutations associated with genetic diseases in Brazilian goat populations.
Bezerra et al. (Wed,) studied this question.