Parents

Mutations in the ZBTB18 gene cause ‘Intellectual development disorder, autosomal dominant 22’.
This genetic syndrome is characterized mainly by developmental delay/intellectual disability, abnormalities of the corpus callosum (a thick bundle of nerves connecting both sides of the brain) and microcephaly (a small headcircumference).

ZBTB18 mutations are rare. Thus far, approximately 25 patients were described in literature. More studies are needed to determine how frequently ZBTB18 mutations occur.

ZBTB18 mutations are inherited in an autosomal dominant manner. Each person has two copies of a gene. In autosomal dominant inheritance, a mutation in one of the two copies of the ZBTB18 gene causes the disorder.
So far, all mutations in the ZBTB18 gene occurred de novo. This means that the parents of the persons with a mutation in the ZBTB18 gene did not have the same mutation.

When parents of a person with a ZBTB18 mutation do not have the mutation, the chance that a following child will inherit the same mutation is less than 1% (1 in 100).

When a person with a ZBTB18 mutation conceives a child, this child has a 50% chance of inheriting the ZBTB18 mutation.