​A new kind of congenital disorder caused by a group of mutations in a gene previously linked only to a rare progressive brain disease has been discovered by an international team co-led by Saudi investigators.

The disorder—congenital hypotonia, epilepsy, developmental delay, digit abnormalities, or CHEDDA—is characterized by intellectual disability, reduced muscle tone and facial abnormalities. It results from defects in ATN1, a gene also implicated in a neurodegenerative condition called dentatorubral-pallidoluysian atrophy (DRPLA). However, the disease-causing mutations responsible for each illness occur in different regions of the gene, and the clinical symptoms of DRPLA and CHEDDA are observably distinct.

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Image: The KAUST research team (l-r): Stefan Arold, Łukasz Jaremko, Mariusz Jaremko, Heba Ahmed, Jasmine Merzaban, Fajr Aleisa and Seungbeom Hong.
Reproduced with permission from reference 1 © 2019 journal