Paula and Bobby
Parents of Lillie
What is White-Sutton syndrome?
It is a rare genetic syndrome that often presents with autism features that affect an individual's social skills, behaviour 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 which 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, 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 does someone get tested for White-Sutton syndrome?
The initial testing for White-Sutton syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
What is FDNA Telehealth?
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