The discovery of a mutated gene is shedding light on the severity of kidney disease in those with Joubert syndrome. The BSND gene is called a modifier gene, and it directly impacts the rate of kidney disease. Not only will the discovery of this gene aid in diagnosis, but it will also help to personalize treatment for every individual. It is hoped that with faster diagnosis and better treatment, the lives of those with this inherited kidney disease will be bettered.
Two children who will not only see the differences in treatment due to this discovery but helped to discover it are Emma and Ben. They are siblings from England who both have Joubert syndrome. They also contributed to the study that led to this discovery.
About Joubert Syndrome
Joubert syndrome is a rare genetic disorder that affects the portion of the brain responsible for balance and coordination. The brains of those with this syndrome have an underdeveloped or absent cerebellar vermis and abnormal brain stem.
It is caused by mutations in at least ten genes, with others still unknown. The most common of these genes are AHI1, NPHP1, and CEP290. All of these affect the cilia, and it is suspected that all of the genes that contribute to Joubert syndrome do as well. Medical professionals believe that a malfunction of the cilia disrupt chemical signals to the brain during development. These genes are inherited in an autosomal recessive pattern.
The symptoms of Joubert syndrome are typically present in infancy, and delays in gross motor development are the most noticeable. The most common effects of this disorder are a lack of muscle control, abnormal breathing patterns, sleep apnea, abnormal movements of the eyes and tongue, low muscle tone, and eye problems. Liver and kidney problems are also common, and they range in severity. Extra fingers and toes, hormone abnormalities, and gaps in the skull with protrusions of the brain membranes are less common symptoms. After these symptoms are noticed, a diagnosis is usually obtained through an MRI and confirmed through genetic testing.
Treatment for Joubert syndrome is symptomatic. Physical, occupational, and speech therapy are all common for those with Joubert syndrome. Infant stimulation may be helpful in early life to aid in reaching developmental milestones. It is also important that screening of the kidneys, liver, and eyes happen regularly so that prompt treatment may occur.
About the Discovery of the BSND Gene
The BSND gene is a modifier gene, as it is responsible for the severity of kidney disease. It is present in those with the CEP290 mutations. It was discovered in a study conducted at the Translational and Clinical Research Institute at Newcastle University, where researchers used both human and mouse models to discover the mutation.
This new discovery changes both the diagnosis and treatment for the inherited kidney disease present in those with Joubert syndrome. The identification of the gene allows doctors to look for it when diagnosing kidney disease, which can lead to an earlier diagnosis. It can then change the treatment as well, as doctors can use genetic therapies to reduce the effects of kidney disease. Researchers hope that personalized treatment is the next step, and they will use this gene to achieve it.
Ben and Emma’s Story
Emma and Ben Buckley are siblings from England who both have Joubert syndrome. Emma is eleven, and Ben is eight; and they were both diagnosed with the condition in infancy. They both face very severe kidney disease, and both experienced kidney failure before the age of eight. Both siblings have been treated with dialysis and kidney transplants.
They have also both been vital to the study that led to the discovery of the BSND gene. Researchers have been able to use samples from the siblings to study the mutations in their genes in detail.
The Buckley family is more than happy to help, as they hope that this research will lead to other children with Joubert syndrome avoiding kidney failure. They feel that anything they can do to help the understanding of this condition is “well worth doing.”
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