Support Research

Donate Now

Medical Research

6% Donated/$ 9,350 To Go
As with any medical condition, funding is needed to do research. Since WHSUS is such...
Read More

Research Articles and Medical Publications

This is where many people start when they begin trying to understand what they’re facing. Often, they’re the first thing that comes up when you search for “White Sutton Syndrome” after discovering someone you care about has it. While some of the reading is not for the faint of heart (warning: an excess of medical jargon ahead) there is valuable information here, and we would be remiss if we didn’t recommend some of these for those who feel so inclined. As always, feel free to contact us if you have any questions and we’ll do our very best to help get answers for you.

White-Sutton Syndrome (a Definitive Overview)

From the authors of the original study (Jansen White, V. Reid Sutton and Nurit Assia Bassir) comes a comprehensive overview of White-Sutton syndrome

Medline Plus: White Sutton Syndrome

Medline Plus (formerly The Genetics Home Reference) is a tool that Dr. Sutton recommends that patients’ families familiarize themselves with. Unlike many other medical publications out there, this resource IS intended for laypeople, and its descriptions, while thorough, are also very easy to understand. Dr. Sutton has recently assisted them with fleshing out their White Sutton Syndrome page.

OMIM (Online Mendelian Inheritance in Man): White Sutton Syndrome

According to their website, the “OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes.Here’s their page on White Sutton Syndrome

POGZ truncating alleles cause syndromic intellectual disability

This is Dr. Jansen White’s original paper, published January 6th, 2016, which the White Sutton Syndrome Foundation has designated White Sutton Day.

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Published a few months after Dr. White’s paper, this extensive paper points out what many of us have come to know: many individuals with White Sutton Syndrome also have ASD.

POGZ pogo transposable element derived with ZNF domain

This is the National Center for Biotechnology Information (NCBI) reference page for the POGZ gene. A mutation of this gene is responsible for White-Sutton syndrome.

Current Research

POGZ suppresses 2C transcriptional program and retrotransposable elements

Published in August 2023, this article addresses the role that the POGZ gene plays in maintaining embryonic stem cells, in part due to its suppression of both Dux and endogenous retroviruses. The full text can be found at cell.com.

Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction

A broader study published in May 2023 that addresses cyclic vomiting, which is a symptom many with WHSUS are familiar with. The authors score 12 genes (including POGZ) as being “highly likely” to contribute to cyclic vomiting syndrome. The full text can be found at frontiersin.org.

White-Sutton syndrome and congenital heart disease: case report and literature review

Published in April 2023, this study examines the case of a 2-year-old girl with a de novo POGZ mutation who presented with several symptoms, including congenital heart disease. The authors make the case for a link between POGZ mutations and congenital heart disease. The full text is available at biomedcentral.com.

Autism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes

Published in December 2021, this is another mouse-model study that examines neurodevelopmental impairment in association with both the POGZ gene as well as the ADNP gene that causes ADNP syndrome (also known as Helsmoortel-VanDerAa Syndrome). The full text is available at sciencedirect.org.

POGZ promotes homology-directed DNA repair in an HP1-dependent manner

Published in November 2021, this study examined the role that POGZ plays in DNA repair, and the effect that deactivation or haploinsufficiency has on its function. The full text is available at embopress.org. A big “thank you” to Dr. Alexandre Orthwein for sharing!

A case of White–Sutton syndrome arising from a maternally-inherited mutation in POGZ

This article, published in August 2021, addresses something very unique: an inherited case of White-Sutton syndrome passed from the mother to her son. The full text is available at lww.com.

Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report

Published in July 2021, this case study examines an 8-year-old female patient who presented with a novel heterozygous POGZ mutation while also experiencing paroxysmal not-epileptic events. The authors suggest that it is likely that these events “could be more frequent than expected” and that they belong ” to the WHSUS phenotypic spectrum”. The full text is available at biomedcentral.com.

Pogz deficiency leads to transcription dysregulation and impaired cerebellar activity underlying autism-like behavior in mice

Published in November 2020, this study used a mouse model and focuses on the link between POGZ mutations and autism-like behaviors. The full text is available in the journal Nature.

Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes

Published in February 2020, this study used a mouse model and was the first we have found to theorize that social deficits caused by POGZ mutations could be treated using epilepsy medications. The full text is available in the journal Nature.

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome)

Published in November 2019, this is the first study in which the White Sutton Syndrome Foundation was directly involved. Drs. Nurit Batzir and V. Reid Sutton et al. endeavor to expand the White-Sutton syndrome phenotype. The full text can be obtained by those with access to Wiley Online Library.

Multidisciplinary management of a child with White‐Sutton Syndrome

Published in September 2019, this entry from the International Journal of Paediatric Dentistry included an abstract (C5) detailing a patient with White-Sutton syndrome who also suffered from chronic oral ulcers.

POGZ-related epilepsy: Case report and review of the literature.

Published in May 2019, this PubMed entry details emerging evidence that some WHSUS individuals may experience seizures due to their POGZ gene changes.

Pogz deficiency leads to abnormal behavior, transcription dysregulation and impaired cerebellar physiology

Published in October 2018, this study used a mouse model to explore the effects that deletion of the POGZ gene has on development. While not yet peer-reviewed, it offers fresh insights into White-Sutton syndrome, and is the first study we’re aware of to use mouse models to further the understanding of POGZ.

Posts About Research