Researchers at Children's Hospital of Philadelphia (CHOP) have pinpointed variants in the WDR26 gene to a rare syndrome characterized by intellectual disability, seizures, an abnormal gait and distinctive facial features. In a study published in the American Journal of Human Genetics Deardorff, first author Cara M. Skraban, MD, also of CHOP, and co-authors from medical centers in six countries reported on 15 individuals now known to have this recognizable syndrome. Prior to this it was not even listed in some of the most commonly used databases.
The affected individuals ranged from two years old to 34 years old. All the patients had developmental delays (ranging from mild to severe), seizures, and similar facial features (such as wide mouths, prominent upper lip and gums, full cheeks and a broad nasal tip). Many had subtle abnormalities in their gait. All 15 had de novo (new) mutations - those arising in a single egg or sperm that developed into the affected patient, but did not occur in the patient's parents.
CHOP has started a patient registry to compile clinical data on this rare condition (see [email protected]). The data collection may offer a resource for families interested in contacting each other to share information and support.
Source: WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features, Cara M. Skraban et al., American Journal of Human Genetics, doi: 10.1016/j.ajhg.2017.06.002, published 6 July 6 2017.