A heritable change in the DNA that occurred in a germ
cell (a cell destined to become an egg or in the sperm) or the zygo te (the conceptus)
at the single-cell stage. When transmitted to a child, a germline mutation is incorporated
in every cell of their body.
Germline mutations play a key role in genetic diseases. They play a role, too,
in certain types of cancer as, for example, the eye tumor retinoblastoma and Wilms
tumor, a childhood malignancy of the kidney.
A germline mutation is in contrast to a somatic mutation which is acquired in
a single body cell.
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