What is White-Sutton syndrome?
White-Sutton syndrome is a rare genetic syndrome that often presents with autism features that affect an individual’s social skills, behavior, and ability to communicate. Delayed development and intellectual disability also characterize the syndrome. It is also known as Mental Retardation Autosomal Dominant 37 syndrome.
What gene changes cause White-Sutton syndrome?
Changes in the POGZ gene are responsible for causing the syndrome.
It is inherited in an autosomal dominant pattern however most cases of the syndrome to date have been caused by a new or de novo mutation in the gene.
In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
What are the main symptoms of White-Sutton syndrome?
The main symptoms include intellectual disability and developmental delay. Speech and language tend to be more affected than other areas of development such as motor skills. It is common for affected individuals to display features of autism spectrum disorder, and these can also sometimes be combined with an overly friendly personality. Hyperactivity is another common feature.
Unique facial features of the syndrome include a small head (microcephaly), a wide and short skull, wide-set eyes, a flattered middle part of the face, a small mouth, and a thin upper lip. Vision problems are also associated with the syndrome, as is a short stature.
Other symptoms include issues with sleeping, obesity, and gastrointestinal issues.
How is it diagnosed?
To find out if someone has a diagnosis of White-Sutton syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
