This disorder is known as an autosomal dominant condition, meaning that only one of the two copies of the MYH10 gene needs a damaging change to have the disorder. This means that an affected individual would have a 50% chance of passing on this damaging change to a child. Most changes to the gene are known as ‘missense’ changes or an alteration to the DNA instructions that changes a building block in the MYH10 protein structure that impacts its ability to do its job. Changes that damage the entire copy of the MYH10 gene have also been reported (loss-of-function). How MYH10 causes these issues in humans needs to be explored further. Mice that have reduced MYH10 gene function develop very similar organ differences as observed in humans. MYH10 has also been implicated in the biology of a cell structure called the ‘primary cilium’. The primary cilium is akin to a cellular antenna that helps the cell receive important information during development. Alterations to the primary cilium can also produce a similar spectrum of issues in both mice and humans supporting a key role in the pathogenesis of this disorder.
MYH10