De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly

Original research report by Y. Ye et al. (2015).

Read the report here.

Out of over 2,400 people who underwent clinical whole-exome sequencing, researchers identified seven people with changes in the POGZ gene. Parental information was not available for one person, but the changes in the other six people were not found in either parent. Ranging from 1 to 16 years old, these people all had delays in development, including delayed walking and talking. Six of the people were also found to have differences in facial features and low muscle tone. The 1-year-old was not assessed for intellectual disability, but all of the other six had intellectual disability. Three people were also found to have a smaller-than-average head size. The researchers’ observations are summarized below.

Clinical Features Observed in Patients with de novo POGZ Mutations

Clinical Feature Number of Individuals with Feature
Developmental Delay 7/7
Intellectual Disability 6/7
Hypotonia 6/7
Dysmorphic features 6/7
Microcephaly 3/7
Brain abnormalities 3/7
Cyclic vomiting 3/7
Migraines 2/7