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LMBRD2 - Understanding to Move Forward

🧬 Introduction

Mutations in the LMBRD2 gene are rare and can lead to complex developmental disorders in children. These mutations, called "de novo," appeared spontaneously and were not inherited from you, the parents. They cause a range of symptoms, from motor delays to neurological abnormalities.This article aims to clearly explain what we know - and especially what we are still trying to understand - to better support your child.

🔬 The Mystery of the LMBRD2 Gene
What we still don't know
Here is the current scientific reality: we do not know the precise function of this gene.
This is hard to hear when you're looking for answers, we know. But it is precisely this unknown that is mobilizing researchers around the world today.


🤔 The fundamental questions we are working on:

  • What is the exact role of the LMBRD2 protein in the body?

  • Does the mutation cause a gain of function (the protein does too much or does something new)?

  • Or is it a loss of function (the protein no longer fulfills its role)?

 

No one can answer with certainty today. This is our challenge, and that's why we are launching diverse studies to solve this mystery.​

LMBRD2 gene analysis

🩺 The Manifestations You Observe
Even though we don't yet understand the mechanism, we know the symptoms well. Here is what many families experience:


🦵 Motor development

  • Your child may have walked late, between 20 and 36 months

  • Difficulties sitting or crawling at the expected age

  • Progressive spasticity in the legs, this muscle stiffness that makes movements more difficult

  • Wide-based gait, with contractures around the knees

 

🗣️ Language development

  • Speech development that is delayed

  • Limited vocabulary (sometimes 20 to 50 words)

  • In some cases, complete absence of oral language


🧠 Intellectual development

  • Global delay in skill acquisition

  • Sometimes regression: your child loses abilities they had acquired

  • Difficulties interacting with their environment in complex ways


🧬 What brain scans show

  • Thinning of the corpus callosum: this structure that connects the two brain hemispheres is thinner, affecting communication between the two sides

  • Hypomyelination: the protective sheath around nerve fibers is reduced, which slows signal transmission

  • Microcephaly: a head circumference smaller than average


⚡ Other possible difficulties

  • Epileptic seizures or muscle spasms

  • Partial deafness

  • Permanently curved fingers (camptodactyly)

  • Small or malformed teeth


🌈 Every child is unique. Some have all these symptoms, others only a few. Severity varies greatly from one child to another.

🧪 How We Are Seeking to Understand
Faced with this scientific mystery, we have established a comprehensive research program: 

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🪰 Studies on Drosophila (fruit fly)

It may seem strange to work on flies when it concerns your child. But this is an essential first step.

  • Its genetics are simple and quick to study

  • We could begin to understand whether it's a gain or loss of function

 

🔬 Functional assays
From the discoveries on Drosophila, we will move to experiments on human cell cultures.

  • Analysis of LMBRD2 protein behavior

  • Study of its interactions with other molecules

  • Understanding disrupted cellular mechanisms

  • It's like assembling a puzzle piece by piece to see the complete picture

 

🧬 Complementary potential genetic approaches
We could use the most advanced technologies, such as:

  • Complete genome sequencing

  • Comparative studies with other genes with similar effects

  • Search for molecules that could modify the mutation's effect

  • Each angle of approach gives us new insight

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​🐭 Animal models - Our next goal

This is one of our next major step, but we need your help!

 

  • After Drosophila, we will need to develop mouse models

  • These models will allow us to observe neurological development

  • We will be able to test therapeutic approaches

  • But for this, we need to find the necessary funding

 

💰 Your support and that of associations are essential to take this crucial step!

 

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​💚 What You Need to Remember
For You, Parents
 

💗 No guilt needed
This mutation appeared spontaneously, during a natural error in DNA copying. It's no one's fault. It could have happened to anyone. You did nothing wrong.
 

🌈 Your child is unique
Symptoms and their evolution vary enormously from one child to another. Some progress may surprise you. Don't compare your journey to that of other families - each story is different.


🔬 Research is advancing for your child
Each study, from Drosophila to functional assays, brings us closer to understanding. And understanding is the first step toward solutions. Your child, by their very existence, contributes to advancing science.

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🤝 You Can Participate
You are not spectators of this research, you are essential actors:
 

  • Participate in clinical studies - Every piece of data counts

  • Share genetic information - Anonymized and secure

  • Join our family association - Mutual support is precious

  • Support research financially - To fund animal models and advance faster

  • Raise awareness around you - Make LMBRD2 known to mobilize more resources

💙 A Message of Hope
Yes, we don't yet know the function of the LMBRD2 gene. Yes, we have more questions than answers. But this ignorance is not a dead end, it's a starting point. Every day, researchers are working for your child. From fruit flies to cell cultures, from genetic analyses to future animal models, we are exploring every avenue. Each small discovery brings us closer to the goal.


You are not alone in this journey. Other families are experiencing the same thing. Doctors, researchers, and associations are here to support you. Your child is precious. Your journey is difficult, we know. But together - families, doctors, researchers - we are moving forward. Hope is not wishful thinking, it's a driving force that pushes us to search, to understand, and to never give up.

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✨ Because every child deserves our total commitment.

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