on chromosome 17,
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, and it’s an autosomal recessive trait,
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, meaning that both parents have to have the mutation for their child to have the disease. That also explains why the disease has largely been confined to small pockets of the Dutch population where inbreeding is common. (Note that the recent surgical patient’s name and info has not been released,
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, so we don’t know her family history.)
Why the Dutch? It may just be because this particular mutation happened randomly in someone in the Netherlands who was part of a small population. That person’s descendants would carry a copy of the mutated gene, and if later generations intermarried,
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, two carriers could have children with the two copies of the gene needed to have the disease.
Van Buchem disease is similar to some other bone-thickening diseases,
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, such as sclerosteosis,
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, found mostly among Afrikaners in South Africa (another Dutch connection). Both conditions lead the body to produce lower- than-normal amounts of a protein called sclerostin. Bones don’t just grow once when you’re young and drinking your milk; competing bone cells are constantly building bone and breaking it down. Sclerostin helps bones maintain a balance,
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, and without it they gradually build and build. And that’s how you end up with a 2-inch-thick skull.
The patient who received the new plastic skull had slowly lost her vision as her skull thickened and pressed in on her brain,
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. She started to suffer from motor

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