Tous avec Noé - What is MCOPS12?

MCOPS12 is a rare and complex neurological disease discovered in 2013. It is caused by a mutation in the retinoic acid receptor beta gene (RARβ). Many variants of this genetic mutation have been identified among the roughly sixty to seventy people affected worldwide. Noé has the extraodinary particularity of having a unique variant (meaning that as of now, he is the only child in the world with this specific genetic change).

What are MCOPS12 symptoms? Eye development disorder: for instance, microphtalmia is common. It is a reduction in the size of the eyeball, which leads to visual impairment. Severe motor disorders: these may include hypotonia, characterized by low muscle tone; spasticity, described as muscle stiffness; or chorea, which leads to involuntary movements. Cognitive impairment: for instance, speech disorders or learning disorders are often present in known cases of MCOPS12. However, these symptoms are not always present. Heart and diaphragm disorders: congenital heart defects or diaphragmatic hernia occur. The severity of these conditions can vary. That can lead not only to respiratory failure but also pulmonary hypertension.

Symptoms of MCOPS12 can vary depending on the type of the disease. Some patients may have milder symptoms or only exhibit a few of them. The affected gene in MCOPS12 is the retinoic acid receptor beta (RARβ) gene, located on the short arm of chromosome 3. It encodes the protein of the retinoic acid receptor bata and enables the expression of many genes in the body. RARβ is a transcription factor, which means its proteins control the transcription rate of the genetic information from DNA to messenger RNA. A mutation in RARβ affects this process, which can cause problems in the cells where the gene is active.

The affected gene plays a prominent role in eye, heart, and diaphram developement. Hence, MCOPS12 may lead to microptalmia or congenital heart defects. Some parts of the brain are also affected, including the prefrontal cortex (involved in speech, memory, and reasoning) and the striatum (which helps control movement and learning). This explains why people with MCOPS12 may have movement disorders or cognitive challenges.

How does this disease affect Noé? What symptoms does Noé have? Noé has spasticity in his legs. He benefits from physical therapy and toxin injections. Noé has multiple eye conditions. To improve his sight, he underwent his first surgery on his right eye when he was four months old. He receives regular eyecare in Toulouse. Noé is severely visually impaired. He can recognize and name colors and objects, and he knows how to locate himself in space. However, his visual field is limited and tirable. He is currently learning braille and is supported by a specialized education and care unit. He also has learning disorders. When was he diagnosed? Noé was diagnosed with MCOPS12 in November 2019. However, doctors do not know much about this disease. No one is able to tell us what Noé will or will not be able to accomplish. The news was overwhelming for us. Noé never ceases to amaze us. He is constantly progressing. We believe in him. What does medical research aim to do? We hope that Noé can benefit from a therapy that will help him improve his motor skills and allow him to stand and walk more easily. Current therapeutic research gives us hope. Through our nonprofit, we aim to contribute financially to this research so that as many children as possible can benefit from it. To learn more about ongoing research, you can visit the "Support research" tab.

Learning of Braille

Noé is currently learning braille. I also had the opportunity to learn braille in order to help Noé in his activities. To learn more about braille, you can find information in the Raise awareness tab.

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