Paula and Bobby
Parents of Lillie
What is USP7-Related Disorder?
Also known as Hao-Fountain syndrome, this gene mutation disorder is a neurodevelopmental condition. Symptoms can vary according to the individual affected, not all symptoms present in all individuals, and symptoms may vary according to their severity. The syndrome presents with both physical and behavioral features.
This syndrome is also known as:
HAUSP Herpesvirus-associated Ubiquitin-specific Protease; Hausp TEF1 Ubiquitin-specific Protease, Herpesvirus-associated Vmw110-associated Protein, 135-kd
What gene changes cause USP7-Related Disorder?
Changes in the USP7 gene are responsible for the syndrome. This gene is a protein-coding gene that is responsible for tumor suppression, and the body’s immune response amongst other roles. The changes to the gene are usually point mutations or gene deletions.
The syndrome is inherited in an autosomal dominant pattern. However most cases recorded so far have been the result of de novo or new mutations in the gene, and the first case in a family.
What are the main symptoms of USP7-Related Disorder?
Hao-Fountain syndrome presents with a wide range of symptoms, not all of which affect all individuals.
Developmental delay is common, particularly speech delay. Some individuals affected by the syndrome never learn to speak. Intellectual disability and developmental delay are also main symptoms. Many individuals also have behavioural issues, ranging from aggressive behavior to impulsivity and compulsivity). Others are also found to be on the autism spectrum, and to have ADHD.
Unique physical features of the syndrome include dysmorphic facial features, a short stature and issues with the eyes (esotropia, myopia, strabismus, nystagmus). Small hands and feet are also characteristic of the syndrome.
Other symptoms may include seizures, low muscle tone both in infancy and into adulthood, sleep apnea and troubles sleeping, scoliosis and contractures (bent joints).
How does someone get tested for USP7-Related Disorder?
The initial testing for USP7-Related Disorder 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.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
Medical information on USP7-Related Disorder
Six patients with heterozygous chromosomal microdeletions and one with a heterozygous nonsense mutation in the USP7 gene were described by Hao et. al. (2015). Clinical characteristics included intellectual disability (100%), autism spectrum disorder (83%), epilepsy (71%), aggressive behaviour (57%), hypotonia (57%), and hypogonadism (80%).
* This information is courtesy of the L M D.
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