Congenital myopathies can be caused by mutations in different genes, and many of the causative genes are associated with >1 histologic diagnosis (2).
GH deficiency may also be caused by mutations in genes that regulate its synthesis and secretion.
The induction of polydactyly by Sonic hedgehog in laboratory experiments raised the possibility that inherited cases of polydactyly might be caused by mutations in the Sonic hedgehog gene.
Central diabetes insipidus also can be caused by mutations in the genes encoding vasopressin and neurophysin (a protein synthesized by the hypothalamus) that result in decreased production of vasopressin.
More common diseases, like cancer, are thought to be caused by mutations in several genes, and finding the causes was the principal goal of the $3 billion human genome project.
Dilated cardiomyopathy (DCM) can be caused by mutations in the cardiac protein phospholamban (PLN).
Many are known to be caused by mutations in single genes, yet for the vast majority no treatments are available.
PDH deficiency can be caused by mutations in several different genes (e.g., PDHA1 [OMIM 300502], PDHX [608769], PDHB [179060], DLAT [608770]; see [2] for overview).
Many human hereditary retinal degenerations are now known to be caused by mutations in genes that encode proteins exclusively expressed in photoreceptors.
FHM is the only migraine subtype for which a monogenic mode of inheritance (autosomal dominant) has been clearly established to be caused by mutations in any of the following three gene loci CACNA1A, ATP1A2 and SCN 1A [2, 3].
Many of the reported cases of inherited X-linked sideroblastic anemia have been found to be caused by mutations in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) [8].
