Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis

Conclusion This study described four Chinese LINCL siblings who were diagnosed by WES. The patients of these four families had similar disease courses started from motor regression or seizures to cognition regression and visual loss but carried mutations in different genes i.e. CLN2, CLN5, CLN6, and CLN7. The clinical features of LINCLs in these four Chinese siblings were not significantly different from those of Western patients. However, all Chinese LINCL patients in this study presented similar clinical course despite the affected genes. We assumed it as an ethnic specific clinical course according to our observation. Expanded sample size will be helpful to investigation of phenotype-genotype correlation. Besides, a platform for better communication, data and diagnostic experience sharing between Chinese and international clinicians is also required for further investigation (Jia and Shi, 2017). Moreover, three mutations that detected in this study are novel mutations, and two of them occurred in intronic regions. These findings expanded the variant diversity of LINCLs. Ethics Statement This study was carried out is approved by Capital Medical University Beijing Children's Hospital Ethics Committee. The protocol was approved by the Capital Medical University Beijing Children's Hospital Ethics Committee. All subjects gave written informed consent in accordance with the Declaration of Helsinki. Consent for Publication The patient's parents gave ...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research