New Genetic Syndrome Identified May Offer Answers for Puzzled Parents
[Source: Medical X-Press]
Researchers have identified a rare genetic syndrome characterized by intellectual disability, seizures, an abnormal gait and distinctive facial features. The scientists pinpointed variants in the WDR26 gene as causes for this distinctive, yet unnamed condition. Their early research provides initial information for counseling patients and families coping with uncertainties for children with the rare, poorly recognized 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 study leader Matthew A. Deardorff, MD, PhD, a 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.”
Deardorff, first author Cara M. Skraban, MD, also of CHOP, and co-authors from medical centers in six countries published their research today in the American Journal of Human Genetics.
“Prior to our identification of individuals with changes in this gene, it was not even listed in some of the most commonly used databases,” said Deardorff. “The notable efforts by our colleagues here in the Division of Genomic Diagnostics at CHOP, and at key labs in the Netherlands and Maryland, helped us to make this discovery possible.”
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