POGZ truncating alleles cause syndromic intellectual disability

Original research article by J. White et al. (2015)

Read the abstract here.

Using whole-exome sequencing, the researchers were able to identify five unrelated people with changes in the POGZ gene that were not found in either parent. These people ranged in age from 19 months to 15 years in age. They shared many clinical features, including developmental delay or intellectual disability, low muscle tone, behavioral issues, and differences in facial features. The characteristics noted in these people are summarized in the table below.

Clinical Feature Number of Individuals with Feature
Intellectual Disability/Developmental Delay 5/5
Autism Spectrum Disorder (ASD) 2/5
Hearing impairment 3/5
Vision impairment 5/5
Muscle weakness (hypotonia) 4/5
Behavioral issues 4/5
Differences in facial features 5/5
Gastrointestinal issues (such as problems eating, stomach/digestive problems) 4/5
Smaller than normal head due to abnormal brain development (microcephaly) 3/5
Eyes not properly aligning (strabismus) 4/5