An international team led by scientists of the Bellvitge Biomedical Research Institute (Idibell) of l’Hospitalet de Llobregat (Barcelona) has discovered a new ultra-rare neurological disease due to mutations of a gene that currently affects thirteen people in the world.
The discovery, published in the American Journal of Human Genetics, has been possible thanks to genome sequencing and the application of new clinical genomics tools and computational algorithms developed by the Idibell team.
“It’s a kind of disease that affects the white matter of the brain and these patients have walking, cognitive, developmental problems or facial dysmorphia,” the director of the Neurometabolism department at Idibell, Aurora Pujol, explained to EFE.
The international team led by Pujol, also a researcher at the Networked Biomedical Research Center for Rare Diseases (Ciberer), has identified mutations in the RPS6KC1 gene as the cause of a new genetic neurodevelopmental disease.
Las mutations They have been detected in thirteen people from eight families around the world, with no relation between them.
One case of this ultra-rare disease corresponds to a patient treated at the Bellvitge de l’Hospitalet de Llobregat University Hospital.
Pujol has highlighted that in the near future cases will probably increase in the world, at a time when the scientific community has discovered the disease and has classified it as such.
Although an eventual treatment is still “far away,” identifying the disease “is a great advance to improve the diagnosis of patients with rare diseases and gives clues to better understand the function of this gene and other gene chains,” said the researcher.
“The diagnosis is the first step and for families it is a relief to give a name and surname to their illness,” because from there “they can get in touch with other families and group together in patient associations to help each other and the clinicians – the doctors who care for them – because this is a team effort,” Pujol stated.
The researcher explained that within the same family there can be very different cases in terms of symptoms, from fetuses that cannot thrive due to malformations to people who develop problems during life.
Las neurological manifestations The disease covers a wide spectrum of neurological impairment, ranging from severe congenital forms incompatible with life to spastic paraplegia (constant contracture of the lower extremities) and severe or mild neurodevelopmental problems.
Some patients may only have a cognitive disorder or behavioral without motor involvement.
In the study, scientists have observed that the majority of patients with the new disease share clinical manifestations with patients with Coffin-Lowry syndrome.
Coffin-Lowry syndrome, already described years ago, is a rare genetic disorder caused by the mutation in another member of the same family as RPS6KC1 (in this case, the RPS6KA3 gene), and is characterized by growth anomalies, dysmorphology and intellectual disability varying from mild to severe.
Research centers and hospitals from all over the world (Spain, the United States, Italy, Germany, the United Kingdom, Iran, Finland, Estonia, Pakistan and Turkey) have participated in the research, in an international collaborative effort.
