White-Sutton Syndrome — Research Summary
Printed from RareWays (rareways.com.au) on 13 September 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
DNA methylation episignature for White-Sutton syndrome due to POGZ variants
Sadegheh Haghshenas et al. — Genetics in Medicine Open (1 August 2026)
https://doi.org/10.1016/j.gimo.2026.104489
- 2.
Prenatal Diagnosis of White-Sutton Syndrome Associated With Autosomal Dominant POGZ Variants Presented With Craniofacial Abnormalities and Borderline Microcephaly Identified in the Second Trimester.
Liu Ping et al. — Prenatal diagnosis (1 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42244052/
- 3.
Familial White-Sutton Syndrome Caused by a Pathogenic POGZ p.Arg508* Variant: Intrafamilial Variability from Childhood to Adulthood.
Chetta Massimiliano et al. — Genes (21 June 2026)
https://pubmed.ncbi.nlm.nih.gov/42353881/
- 4.
Transcriptome analysis of patients with loss-of-function POGZ variants in four unrelated Chinese families.
Wu Yong et al. — Gene (15 May 2026)
https://pubmed.ncbi.nlm.nih.gov/41763504/
- 5.
White-Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects.
Facchini Anna et al. — Clinical genetics (1 February 2026)
https://pubmed.ncbi.nlm.nih.gov/41499647/
Clinical Trials — Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Recruiting — Sanford Health
https://clinicaltrials.gov/study/NCT01793168
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
White-Sutton Syndrome
White-Sutton syndrome is a rare genetic condition caused by changes in the POGZ gene. It usually involves developmental delay and intellectual disability, and may include speech difficulties, autistic features, low muscle tone, feeding problems, vision problems such as squint, hearing loss and distinctive facial features. There is no specific treatment, so care focuses on early therapies, education support and managing each symptom.
White-Sutton Syndrome is very rare and little research has been published, so this page includes research from every year, including case reports about individual patients. Case reports are marked, and describe one person's experience rather than tested results.
Most Recent Research
Common Questions
What is White-Sutton Syndrome?
White-Sutton syndrome is a rare genetic condition caused by changes in the POGZ gene. It usually involves developmental delay and intellectual disability, and may include speech difficulties, autistic features, low muscle tone, feeding problems, vision problems such as squint, hearing loss and distinctive facial features. There is no specific treatment, so care focuses on early therapies, education support and managing each symptom.
How many clinical trials are available for White-Sutton Syndrome?
RareWays currently indexes 2 clinical trials for White-Sutton Syndrome, of which 2 are actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for White-Sutton Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
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This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.