In 1997, the A53T missense mutation was reported in a large Italian family associated with familial PD [ 4].
This is the first case of familial glucocorticoid deficiency associated with familial focal segmental glomerulosclerosis.
This study identified three causal variants in a set of genes previously associated with familial thoracic aortic aneurysms in 155 familial and sporadic AAA patients.
A consistent finding is that the C9ORF72 expansion is the most frequent mutation associated with familial cases, accounting for 25.1 % of familial FTLD [ 5].
Mutations within the BRCT domain of BRCA1 that are associated with familial breast cancer, but not polymorphisms without disease association, suppress this slow growth phenotype [7].
GC with familial cluster, in absence of other tumours, led to the search for genetic or environmental risk factors that are associated with familial GC development's risk.
In contrast, mutations that affect ADAMTS13 cause diseases characterized by excess clotting and have been associated with familial thrombotic thrombocytopenic purpura, a rare disorder involving abnormal blood coagulation.
There are also some qualitative abnormalities in lipoproteins that appear to control the risk of atherosclerosis and are also associated with familial propensity.
Mutations in a number of genes including SOD1 and FUS are associated with familial ALS.
To evaluate various surgeries for treating retinal detachment (RD) associated with familial exudative vitreoretinopathy (FEVR).
