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Background  Neuronal ceroid lipofuscinoses (NCLs) are one of the most frequent childhood-onset neurodegenerative pathologies characterized by seizures, progressive cognitive decline, motor impairment and loss of vision. For the past two decades, more than 430 variants in 13 candidate genes have been identified in the affected patients. Most of the variants were almost exclusively reported in Western patients, and very little clinical and genetic information was available for Chinese patients.    Case presentation  We report a Chinese boy whose clinical phenotypes were suspected to be NCL, including intractable epilepsy, cognitive and motor decline and progressive vision loss. Using targeted next-generation sequencing, two novel null variants in  CLN8  (c.298C > T, p.Gln100Ter; c.551G > A, p.Trp184Ter) were detected in this patient in  trans  model. These two variants were interpreted as pathogenic according to the variant guidelines of the American College of Medical Genetics and Genomics.    Conclusions  This is the first case report of NCL due to  CLN8  variants in China. Our findings expand the variant diversity of  CLN8  and demonstrate the tremendous diagnosis value of targeted next-generation sequencing for pediatric NCLs.    Electronic supplementary material  The online version of this article (10.1186/s12881-018-0535-7) contains supplementary material, which is available to authorized users.

bmc medical genetics

Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants