Chromosome 15q11.2 Deletion
What is Chromosome 15q11.2 Deletion?
Chromosome 15q11.2 Deletion Syndrome is a genetic disorder caused by the loss of a small segment of DNA on the long arm of chromosome 15, specifically between breakpoints BP1 and BP2 (see RareShare guide on chromosomal nomenclature). This microdeletion affects four genes (NIPA1, NIPA2, CYFIP1, and TUBGCP5) important for brain development and function. The condition shows highly variable symptoms, ranging from no noticeable effects to neurodevelopmental delays and behavioral challenges.
Synonyms
- 15q11.2 Microdeletion Syndrome
- Burnside-Butler Syndrome
Chromosome 15q11.2 Deletion Syndrome is a genetic disorder caused by the loss of a small segment of DNA on the long arm of chromosome 15, specifically between breakpoints BP1 and BP2 (see RareShare guide on chromosomal nomenclature). This microdeletion affects four genes (NIPA1, NIPA2, CYFIP1, and TUBGCP5) important for brain development and function. The condition shows highly variable symptoms, ranging from no noticeable effects to neurodevelopmental delays and behavioral challenges.
The estimated prevalence is about 1 in 292 individuals in the general population. Among those undergoing genetic testing for neurodevelopmental concerns, it is found in 0.57% to 1.27% of cases.
| Name | Abbreviation |
|---|---|
| 15q11.2 Microdeletion Syndrome | |
| Burnside-Butler Syndrome |
The syndrome is caused by a microdeletion of approximately 500 kilobases on chromosome 15q11.2 (BP1-BP2 region) (see RareShare guide on chromosomal nomenclature). This deletion can be inherited in an autosomal dominant manner (about 50% of cases) or occur spontaneously (de novo)(see RareShare Guide on Genetic Inheritance). The affected genes, NIPA1, NIPA2, CYFIP1, and TUBGCP5, are involved in neuronal development, magnesium transport, and cytoskeletal regulation.
Symptoms are highly variable and may include:
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Neurodevelopmental Delays
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Motor delays
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Speech delays
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Learning difficulties, especially in reading and writing
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Behavioral and Psychiatric Conditions
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Autism spectrum disorder
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ADHD
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General behavioral issues
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Increased risk of schizophrenia in adulthood
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Neurological Features
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Seizures
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Abnormal brain imaging findings, such as white matter changes
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Physical Characteristics
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Dysplastic (misshapen) ears, broad forehead, hypertelorism (increased distance between the eyes)
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Cleft palate
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Genetic testing:
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chromosomal microarray analysis
- Only about 1.3% of carriers show clinical symptoms (incomplete penetrance)
There is no cure; management is supportive and tailored to individual needs:
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Early intervention therapies (speech, occupational, physical)
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Neuropsychiatric evaluation and support
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Monitoring for seizures and structural abnormalities
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Genetic counseling for affected families (50% inheritance risk)
The prognosis for Chromosome 15q11.2 Deletion Syndrome is quite variable and often mild, with most affected individuals experiencing developmental, motor, and speech delays, as well as possible behavioral or emotional issues such as ADHD and autism spectrum disorder. Some individuals may have learning difficulties and mild physical abnormalities, but others may have no symptoms at all. The syndrome shows incomplete penetrance and variable expressivity, meaning even within families, those with the deletion can be only mildly affected or entirely asymptomatic. Overall, life expectancy is expected to be normal for healthy individuals, and supportive services can help optimize developmental outcomes.
Clinical Trials
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
- Complete the screening form.
- Review the informed consent.
- Answer the permission and data sharing questions.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
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Created by xjessicaxamyx | Last updated 12 Nov 2015, 10:49 AM
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