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Case Reports
. 2018 Feb 8;19(1):21.
doi: 10.1186/s12881-018-0535-7.

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

Zhijie Gao  1 , Hua Xie  2 , Qian Jiang  2 , Nan Wu  3 , Xiaoli Chen  4 , Qian Chen  5
Affiliations
Case Reports

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

Zhijie Gao et al. BMC Med Genet. .

Abstract

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.

Keywords: CLN8; Neuronal ceroid lipofuscinoses; Novel null variant.

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Conflict of interest statement

Ethics approval and consent to participate

All research was approved by the ethics committee of Capital Institute of Pediatrics (SHERLL 2015069). The patient’s parents have provided written informed consent.

Consent for publication

The patient’s parents gave written informed consent to studies and publication of clinical information, images and sequencing data.

Competing interests

The authors declare that they have no competing interests.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
T1-weighted MRI images for the patient showed cerebral (a) and cerebellar (b) atrophy
Fig. 2
Fig. 2
Sanger traces for PCR products of the patient and his parents. a Sanger traces for PCR products of the patient showed the two heterozygous null variants in CLN8 (c.298C > T, p.Gln100Ter; c.551G > A, p.Trp184Ter). b Sanger traces for PCR products of his father, which confirmed that the c.298 C > T variant was inherited from the father. c Sanger traces for PCR products of his mother, which confirmed that the c.551 G > A variant was inherited from the mother
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