Two siblings with ostegenesis imperfect, but their parents are normal. Mechanism of inheritance Is
Germline mosaicism, also called gonadal mosaicism, is a type of genetic mosaicism where more than one set of genetic information is found specifically within the gamete cells. Somatic mosaicism, a type of genetic mosaicism found in somatic cells, and germline mosaicism can be present at the same time or individually depending on when the conditions occur. When the mosaicism is only found in the gametes and not in any somatic cells, it is referred to as pure germline mosaicism. Germline mosaicism can be caused either by a mutation that occurs after conception, or by epigenetic regulation, alterations to DNA such as methylation that do not involve changes in the DNA coding sequence. A mutation in an allele acquired by a somatic cell early in its development can be passed on to its daughter cells, including those that later specialize to gametes. It can also be caused by a sporadic mutation in a gamete cell. If the germline mosaicism causing mutation occurs in the somatic cell, it never results in pure germline mosaicism because it will be present in somatic cells as well.
Anticipation
Genomic impriting
Germ line mosaicism
New mutation
General pathology