Scientists from Centogene observed a deleterious mutation on the ASNS gene which causes low CSF and plasma asparagine in two affected patients of the same family.
The results of this investigation are published in the February issue of the JIMD Reports.
Asparagine synthetase deficiency (ASD) is a newly identified neurometabolic disorder characterized by severe congenital microcephaly, severe global developmental delay, intractable seizure, and spastic quadriplegia.
"Thanks to the latest-generation sequencing we can carry out studies like this that allow the discovery of the cause of specific diseases and therefore aid diagnosis," explains Daniel Trujillano, one of the researchers who conducted the research from Centogene.
"This work demonstrates that the combination of new sequencing technologies and bioinformatics studies is very powerful if applied effectively. Today they have helped to decipher a rare genetic disease, facilitating the diagnosis of such diseases which is often a long and difficult process. For example, in the case of these families, it would have represented more than ten years of research", adds Arndt Rolfs, founder and CEO of Centogene. The work was carried out in collaboration with the Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Through clinical exome sequencing (sequencing of the coding section of the genome with the necessary information to synthetase proteins) of two affected sibling of the same family, scientists from Centogene observed that the two patients shared a deleterious mutation on the ASNS gene, which causes low CSF and plasma asparagine in both patients.