Mutations in the ZBTB18 gene cause ‘Intellectual development disorder, autosomal dominant 22’ (OMIM 612337). The main clinical features are developmental delay/intellectual disability of varying degree, corpus callosum abnormalities and microcephaly.
Heterozygous ZBTB18 mutations are rare. Thus far, approximately 25 patients were described in literature. The exact prevalence of heterozygous ZBTB18 mutations is yet to be ascertained owing to the limited number of cases identified. More studies are needed to determine an unbiased prevalence.
ZBTB18 mutations are inherited in an autosomal dominant manner. However, all mutations that were described occurred de novo.
ZBTB18