Research Opportunities:

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Research Article Summaries:

  • Stessman et al. (2016) - Disruption of POGZ is associated with intellectual disability and autism spectrum disorder

    The POGZ gene is expressed in the brain and is believed to play a role in regulating the development of brain functions. Genetic changes (mutations) in the POGZ gene are believed to impact normal brain function and development. Using diagnostic exome and targeted sequencing, as well as resequencing of individuals who were previously involved in other research studies, researchers were able to identify de novo POGZ mutations (mutations not found in either parent) in 25 individuals with developmental disorders, including intellectual disability (ID) and autism spectrum disorder (ASD). By identifying these 25 individuals, the researchers found similar clinical features that may be associated with the POGZ mutation. Ranging from 11 months to 26 years in age, all identified individuals exhibited some form of ID/developmental delay (DD) or ASD, as well as delays in language skills and coordination issues (summarized below). 

  • White et al. (2016)POGZ truncating alleles cause syndromic intellectual disability

    Using whole-exome sequencing, researchers were able to identify five unrelated individuals with de novo (not found in either parent) gene changes (mutations) in the POGZ gene. Ranging from 19 months to 15 years in age, the individuals identified to have a POGZ mutation shared many similar clinical features, including some form of developmental delay or intellectual disability, muscle weakness (hypotonia), behavioral issues, and differences in facial features. The features observed in these individuals are summarized below.


  • Ye et al. (2015)De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly

    Out of over 2,400 patients who underwent clinical whole-exome sequencing (WES), researchers were able to identify seven patients with de novo mutations (genetic changes not found in either parent) of the POGZ gene. Interestingly, parental information was not available for one of the patients; therefore, six patients are known to have de novo mutations. Ranging from 1 to 16 years old, these patients were all found to have delays in development (DD), which include delayed walking and talking. Six of the patients were also found to have subtle differences in facial features (dysmorphic features), low muscle tone (hypotonia), and intellectual disability (ID) (Note: the 1 year-old patient was not assessed for ID). Three individuals were also found to have a smaller-than-average head size (microcephaly). These features, as well as other clinical observations are summarized below.  

  • De Rubeis, S., et al. 2014. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature.
    In one of the largest whole exome studies to date, researchers analyzed 15,480 DNA samples—which included over 3,800 samples from individuals diagnosed with features of autism, intellectual disability, developmental delay, and/or other health concerns. By studying such large number of samples, the researchers were looking to identify new or undescribed genetic causes of autism.

    Of the 33 different genes identified in children with autism, 15 genes were already known to be associated with features of autism and have already been well described. Eleven “newer” genes were identified- SUV420H1, ADNP, BCL11A, CACNA2D3, CTTNBP2, CDC42BPB, APH1A, GABRB3, NR3C2, SETD5, and TRIO -  this study provides evidence that these genes are associated with the features of autism(because whole exome sequencing is a newer technology and our understanding of the genetic causes of autism is still growing, until now we had not seen a large enough number of children with changes in these genes to make any conclusions). In addition, seven other genes identified in this study are being described for the first time as autism risk genes: ASH1L, MLL3 (KMT2C), ETFB, NAA15, MUY9B, MIB1, and VIL1. A harmful change in the POGZ gene was identified in at least one child with autism in this sample.

You can also visit SFARI's website to see information for researchers about this gene. SFARIgene: POGZ.

Back to: Genetic Changes We're Studying