Two dozen new mutations in the CLN6 gene were identified in nearly 100 people, mostly from the Middle East and North Africa, with CLN6 Batten disease, a study shows. The data come from “one of the largest [groups] to date of genetically diagnosed CLN6 patients screened at a single center,” according to the scientists. As such, the results expand the spectrum of disease-associated CLN6 mutations and identify those more frequent in these underrepresented populations, the team said. Common manifestations of CLN6 Batten disease include loss of coordination (ataxia), seizures, vision impairment, and developmental regression. “Because these are shared by other neurological diseases, identification of CLN6 genetic variants is imperative for early diagnosis,” the researchers wrote.

Source: The North Africa Journal June 30, 2022 18:42 UTC