Mitochondrial disease and Sideroflexin 4

Posted by & filed under Exome sequencing.

Hildick-Smith et al (AJHG, 2013, 5(93) 906-914) used whole exome sequencing in two probands with mitochondrial disease to identify SFXN4 as a candidate gene for the etiology of their disorder. They then were able to take advantage of fibroblast complementation assays  and a zebrafish knockdown model to validate SFXN4 as the causative gene.

With increasing utilization of whole exome sequencing in disorders of unknown etiology, it is becoming more important to identify rapid validation models. This paper is an example of how zebrafish can be utilized in this manner.

Hilary Vernon, MD PhD

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