The condition is caused by changes in the MAP4K4 gene that lead to its malfunction. These changes can either make the gene stop working properly (loss-of-function) or interfere with the normal function of other genes (dominant-negative effects). Most of these genetic changes happen by chance (de novo), but they can also be inherited in a pattern where only one copy of the altered gene is enough to cause the condition (autosomal dominant pattern).
The specific changes in the gene are often "missense" mutations, which mean that a single amino acid building block in the gene is substituted by others, and these usually occur in important parts of the gene known as the kinase domain or the citron homology (CNH) domain.
MAP4K4