LONP1 mutations in CODAS Syndrome

Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION.

Dikoglu et al (AJMG 2015 Volume 167,  Issue 7pages 1501–1509) report the identification of the gene responsible for CODAS syndrome, an ultra- rare syndrome named for its’ cardinal features: Cerebral, ocular, dental, auricular, and skeletal anomalies. The responsible gene, LONP1, likely plays a role in protein turnover within the mitochondrial matrix. Thus, this represents another unique mechanism for a primary disorder of mitochondrial function.

Hilary Vernon, MD PhD

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