RELN
reelin
Normal Function
Health Conditions Related to Genetic Changes
Autosomal dominant epilepsy with auditory features
Variants (also called mutations) in the RELN gene can cause autosomal dominant epilepsy with auditory features (ADEAF). People with this rare form of epilepsy typically hear sounds, like buzzing or humming, during seizures.
RELN gene variants associated with ADEAF reduce the amount of reelin in the body. Research suggests that a shortage of reelin impairs the formation or function of synapses, where cell-to-cell communication occurs. Abnormal communication between neurons can lead to seizure activity in the brain.
More About This Health ConditionRelated Conditions
Autosomal dominant epilepsy with auditory featuresLissencephaly with cerebellar hypoplasiaAutism spectrum disorderMyoclonus-dystoniaOther disorders
Health Conditions Related to Genetic Changes
Variants (also called mutations) in the RELN gene can cause autosomal dominant epilepsy with auditory features (ADEAF). People with this rare form of epilepsy typically hear sounds, like buzzing or humming, during seizures.
RELN gene variants associated with ADEAF reduce the amount of reelin in the body. Research suggests that a shortage of reelin impairs the formation or function of synapses, where cell-to-cell communication occurs. Abnormal communication between neurons can lead to seizure activity in the brain.
Several variants in the RELN gene have been found to cause lissencephaly with cerebellar hypoplasia (LCH). This condition affects brain development, resulting in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. In addition, the brain region involved in coordinating movements is unusually small and underdeveloped (cerebellar hypoplasia).
The RELN gene variants that cause LCH lead to a complete lack of reelin. As a result, the signaling pathway that triggers neuronal migration is not activated. Without reelin, neurons are disorganized, the normal folds and grooves of the brain do not form, and brain structures do not develop properly. This leads to intellectual disabilities, delays in overall development, movement problems, and other signs and symptoms of LCH.
Certain genetic changes that reduce but do not eliminate the production of reelin may increase a person's risk of autism spectrum disorder, a condition that affects communication and social interaction. However, some studies have not supported these findings. Many genetic and environmental factors are believed to contribute to this complex condition.
MedlinePlus Genetics provides information about Myoclonus-dystonia
Studies have shown that certain variations (polymorphisms) in the RELN gene are associated with an increased risk of psychiatric disorders such as schizophrenia and bipolar disorder. Women with these polymorphisms are at particular risk of developing bipolar disorder. However, many genetic and environmental factors likely contribute to the development of these complex conditions.