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Early research provides the initial information used for counseling patients and families coping with the uncertainties associated with the rare and poorly recognized condition. (Photographs: Children's Hospital of Philadelphia)
0 Comments Jul 28, 2017 | News Americas

WDR26 haploinsufficiency may cause abnormalities in facial features

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PHILADELPHIA, Pa., USA: Researchers have identified a rare genetic syndrome that is characterized by intellectual disability, seizures, an abnormal gait and recognizable facial features. Scientists have pinpointed variants in the WDR26 gene as a possible cause for this distinctive, yet unnamed condition.

“Our study identifies 15 individuals now known to have this recognizable syndrome, but we expect that as this information reaches the medical community, more patients will be recognized,” said Dr. Matthew Deardorff, study leader and pediatric geneticist at Children's Hospital of Philadelphia (CHOP). “Our studies are very much in the early stage, but as we continue to gain more clinical and scientific knowledge about this condition, we will be able to better explain to parents what to expect.”

During the study, scientists reported on 15 individuals, ranging between two and 34 years old. All the patients had mild to severe developmental delays, seizures and similar facial features (such as wide mouths, prominent upper lips and gums, full cheeks and a broad nasal tip). Many also had subtle abnormalities in their gait. In all 15 cases, de novo mutations—those that arise in a single egg or sperm and develop in the affected patient, but do not occur in the patient's parents—were found.

In an interview with Dental Tribune Online, Deardorff added that, at this point, data is still limited and too many objective measurements are missing to fully understand the differences between the patients’ dental features. “The mouth does appear to be wide in many of the cases. The lips are often full. We noted that the teeth are often prominent, and that in some, the teeth are wide-spaced and in some the gingiva extends further onto the tooth than expected. At this point, we think that this may be a combination of either a shorter upper lip, or a longer maxilla,” he explained.

The group of researchers at CHOP and global collaborators are aiming to understand the syndrome's functional details and underlying mechanisms. Although the specifics are still under investigation, the authors suggest that the haploinsufficiency (reduced expression) of the WDR26 gene alters multiple signaling pathways and cell functions, thereby producing features of the syndrome.

Deardorff added that CHOP has started a patient registry to compile clinical data on this rare condition and that this data collection (via WDR26@email.chop.edu) may be a useful resource for families interested in contacting each other to share information and receive or give support. “This discovery is just the first step in understanding why changes in WDR26 cause intellectual disability and seizures. With further investigation, our goal is to better understand the biology and identify specific treatments for these children,” he said.

The study, titled “WDR26 haploinsufficiency causes a recognizable syndrome of intellectual disability, seizures, abnormal gait, and distinctive facial features,” was published in the July edition of the American Journal of Human Genetics.

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