Disruption of POGZ is associated with intellectual disability and autism spectrum disorder

Original research article by H.A.F. Stessman et al. (2016).

Read the article here.

The POGZ gene is believed to play a role in regulating the development of brain functions. Changes in POGZ are believed to impact normal brain function and development. Using diagnostic exome and targeted sequencing, as well as resequencing of people who were previously involved in other research studies, researchers identified changes in POGZ, all of them not found in either parent, in 25 people with developmental disorders, including intellectual disability and autism spectrum disorder. The researchers found similar clinical features in the 25 people that may be associated with the change in POGZ. Ranging from 11 months to 26 years in age, the 25 all had some form of intellectual disability/developmental delay or autism, as well as coordination issues and delays in language skills. Their characteristics are summarized below.

Clinical Feature Number of Individuals with Feature
Intellectual Disability/Developmental Delay 25/25
Severe 8/25
Mild 12/25
Only some features 5/25
Speech/Language delay 24/25
Severe 12/24
Mild 11/24
Only some features 1/24
Motor delay 22/25
Severe 3/22
Mild 15/22
Only some features 4/22
Autism Spectrum Disorder 17/25
Mild 13/17
Only some features 4/17
Smaller than normal head due to abnormal brain development (microcephaly) 10/25
Mild 8/10
Only some features 2/10
Feeding problems 10/25
Vision problems 14/25
Obesity 13/25