Intellectual disability – PACS1 mutations

What is PACS1 syndrome?

It is a rare disease which presents with intellectual disability, as well as speech and language issues, as well as characteristic facial features. Symptoms might also include neurological, behavioral and other medical issues.

Less than 30 individuals have been diagnosed with the syndrome globally.

This rare disease is also known as Schuurs-Hoeijmakers syndrome.

What gene changes cause PACS1 syndrome?

Changes in the PACS1 gene are responsible for the syndrome.
It is inherited in an autosomal dominant pattern. 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.

What are the main symptoms of PACS1 syndrome?

One of the main symptoms of the syndrome is intellectual disability, this can range from mild to moderate. Affected individuals also experience speech issues, and usually their speech ranges from very limited to none at all.

Unique facial features of the syndrome include thick and highly arched eyebrows, long eyelashes, widely set eyes, downward pointing outside corners of the eyes, droopy eyelids, a wide mouth with corners that point down, a thin upper lip and widely spaced teeth.
Symptoms of the syndrome can also affect multiple parts of the body including the heart and brain.
Individuals often experience walking delay, and then walk with a gait, making their walking unsteady.
Feeding issues are common with the syndrome. Affected individuals, from childhood, prefer soft foods and often have issues learning how to chew. In later life individuals also often suffer with reflux.
Neurological symptoms of the syndrome include features, affecting communication and social skills, often associated with autism. Individuals may also be diagnosed with attention-deficit, hyperactivity disorder (ADD, ADHD) or obsessive compulsive disorder (OCD). Seizures are also common with the syndrome.

How does someone get tested for PACS1 syndrome?

The initial testing for PACS1 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.

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.

Medizinische Informationen zu Intellectual disability – PACS1 mutations

Schuurs-Hoeijmakers et al., (2012) reported 2 unrelated children who were remarkably similar facial features (downslanting palpebral fissures, hypertelorism, arched eyebrows, low anterior hairline, thin upper lip, large lowset ears and bulbous nasal tip. Both were found to have PACS1 mutations. Another case was reported by Gadzicki et al., (2015) who note the facial similarities with the 2 patients reported by Schuurs-Hoeijmakers et al (2012) patients. They note specifically, the hypertelorism, down-slanting palpebral fissures, thin upper lip, a wide mouth with down-turned corners and a cupid bow.
A female patient with a de novo novel heterozygous missense mutation in the PACS1 gene was described by Miyake et. al. (2018). She had developmental delay, short stature, growth impairment, hypotonia, microcephaly, and typical dysmorphic features (arched eyebrows, widely spaced eyes, wide mouth with downturned corners, and thin upper vermilion).

* This information is courtesy of the L M D.
If you find a mistake or would like to contribute additional information, please email us at: [email protected]

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