Table 3 New sequence variants in PIN1 and brief description of their carriers.
Variant | Diagnosis | Gender | Age at onset (years) | family history of dementia (+/-) | APOE genotype | Tumors |
|---|---|---|---|---|---|---|
g.9805834T>C | LOAD | male | 70 | + (mother had memory and behavioral disturbances at the age of 60) | 34 | benign prostate hyperplasia |
c.24G>T | EOAD | female | 52 | + (mother and father's mother) | 33 | no data |
c.58+64C>T | EOAD | female | 51 | + (father) | 44 | goiter, benign thyroid tumor |
LOAD | female | 71 | + (mothers's brother suffered from dementia) | 34 | osteoma ossis frontalis | |
LOAD | female | 70 | + (father in his eighties developed AD symptoms, sister at the age of 66 had psychiatric problems) | 34 | nodular goitre, breast cancer | |
c.382+105C>T | EOAD | male | 48 | + (father had dementia and died at the age of 73) | 34 | none |