Neuronal Ceroid-Lipofuscinosis (CLN3-Related) (CLN3)
Neuronal ceroid-lipofuscinosis (CLN3-related) is an autosomal recessive neurodegenerative disorder that is caused by pathogenic variants in the gene CLN3. It has been reported in patients from different ethnicities around the world. Most CLN3-caused neuronal ceroid-lipofuscinosis results in the juvenile form, in which symptoms begin between 4 and 10 years of age. Clinical features include progressive visual loss which proceeds to blindness in childhood. Neurologic and psychiatric symptoms include seizures, difficulty speaking, intellectual disability, psychosis or dementia, and ataxia leading to an inability to walk. Affected individuals often die between the ages of 20 and 40. Some patients have a milder form with less neurologic involvement. It is not currently possible to predict the severity of disease based on the patients genotype.
|Disease Name||Gene||Guaranteed Exons||Inheritance||Ethnicity||Carrier Frequency||Detection Rate||Residual Risk|
|Neuronal Ceroid-Lipofuscinosis (CLN3-Related)||CLN3||2-8, 11-15  (c.461-280_677+382del966, p.Y199*, p.E295K)||AR||Caucasian||1 in 188||87%||0.000694927032661571|
|Neuronal Ceroid-Lipofuscinosis (CLN3-Related)||CLN3||2-8, 11-15  (c.461-280_677+382del966, p.Y199*, p.E295K)||AR||Worldwide||1 in 233||87%||0.000559910414333707|