ATP8A2-related intellectual disability-chorea-optic atrophy

What is ATP8A2-related intellectual disability-chorea-optic atrophy?

ATP8A2-related intellectual disability-chorea-optic atrophy is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Cacciagli et al. (2010) characterized a de novo t(10;13) balanced translocation involving the ATP8A2 gene in a patient with severe intellectual disability and hypotonia. At three years of age, she had normal growth parameters but was still severely hypotonic and was not able to hold her head. She could speak only a few words.
Onat et al. (2013) reported a consanguineous family from Turkey where four individuals were affected with cerebellar ataxia, mental retardation and disequilibrium syndrome. The patients had a homozygous missense mutation in ATP8A2. The index case was a 27-year-old man exhibiting total inability to walk. All four patients shared the following clinical features: truncal ataxia with/without quadrupedal gait, intellectual disability and dysarthric speech. MRI results revealed mild atrophy of cerebral cortex, corpus callosum and inferior cerebellum.
Martin-Hernandez et al. (2016) reported the clinical and biochemical findings from two unrelated patients who presented with a novel syndrome characterized by encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. The patients had missense mutations in the ATP8A2 gene. One patient described by Martinez et al. (2016) was a daughter of consanguineous healthy parents. She had axial hypotonia, psychomotor delay, abnormal involuntary movements in extremities and orofacial muscles, horizontal nystagmus, affected hearing. Brain MRI showed mild cerebral atrophy, thin corpus callosum, and delayed subcortical white matter myelination in the temporal and frontal lobes. Eye examination showed a decrease in monocular visual activity, horizontal nystagmus with torticollis, bilateral optic atrophy, thinning of the nerve fibre layer and of the ganglionar cell layer. Supraversion, infraversion, and especially abduction were limited. At seven years old, the child could not hold her head up and she could not sit down or crawl. Orofacial dyskinesias and choreic movements were prominent. However, she was able to identify different parts of the body and colours, and could say some words. The other patient described had severe hypotonia, psychomotor delay and chorea. Brain MRI showed poor myelination in the insula lobes and in the anterior temporal lobes. Ophthalmologic examinations showed bilateral ptosis, esotropia, limited abduction and optic atrophy. By the age of five years, head control, sitting and crawling had not been achieved yet. The girl communicated mostly with signs; her comprehension was well preserved.
Eleven patients with biallelic mutations in the ATP8A2 gene were described by McMillan et. al. (2018). Clinical characteristics included developmental delay, hypotonia, early onset chorea or choreoathetosis, dystonia, facial dyskinesia and optic atrophy. In 70% of the affected individuals, symptoms noted already at birth. Neuroimaging was either normal (50% of the patients) or showed mild cortical atrophy, delayed myelination or hypoplastic optic nerves.

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What gene changes cause ATP8A2-related intellectual disability-chorea-optic atrophy?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.

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.

The syndrome can be caused by mutations in the following gene/s location/s:

What are the main symptoms of ATP8A2-related intellectual disability-chorea-optic atrophy?

The typical symptoms of the syndrome are:

How does someone get tested for ATP8A2-related intellectual disability-chorea-optic atrophy?

The initial testing for ATP8A2-related intellectual disability-chorea-optic atrophy can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. 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.

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