Notably, the S718del, P720R and S718P mutations account for the vast majority of the USP8-mutated cases (77.61%; Figure 1B).
Large deletions and complex mutations account for 23%.
Presenilin-1 mutations account for nearly 50% of all early-onset familial cases of Alzheimer's disease.
Causative ABCA4 mutations account for 79% of STGD and 31% of CRD cases.
However, as SOD1 mutations account for only around 2-52-5% ALS cases, additional therapeutic strategies are needed.
Other high penetrance susceptibility alleles likely exist, but together these heritable mutations account for less than 10% of neuroblastoma cases.
Unknown molecular responses to sarcomere protein gene mutations account for pathologic remodeling in hypertrophic cardiomyopathy (HCM), producing myocyte growth and increased cardiac fibrosis.
Dr. Beaudet, who was not involved in the work, said that spontaneous mutations account for about 10 percent of cases of mental retardation and other learning disabilities.
Because such mutations account for only a small percentage of an individual's overall risk of disease, scientists haven't yet figured out how to use this information to improve health (see "Drowning in Data").
Furthermore, about 50% of the Nav1.5 mutations account for BRGDA1, while 30% for LQT3.
DNM2 mutations account for most, but not all, cases of CNM with autosomal dominant inheritance or later onset.
