Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation

Zi-Rong Chen,De-Tian Liu,Heng Meng,Liu Liu,Wen-Jun Bian,Xiao-Rong Liu, Wei-Wen Zhu, Yong He,Jie Wang,Bin Tang,Tao Su,Yong-Hong Yi

Seizure（2019）

引用 11|浏览5

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摘要

•A homozygous missense TPP1 mutation c.646 G > A/ p.Val216Met is reported.•Patients showed epilepsy but not neurological or ophthalmologic abnormalities.•The LINCL group had a higher frequency of destructive mutation than JNCL group.•The correlation between phenotype severity and genotype explains the phenotypic variation.

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关键词

TPP1,Late infantile neuronal ceroid lipofuscinosis,Destructive mutation,Genotype-phenotype correlation

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