The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses.
The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses.
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DOI：
10.3389/fneur.2021.754045
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发表时间：
2021
影响因子：
3.4
通讯作者：
Mole SE
中科院分区：
文献类型：
--
作者：
Gardner E;Mole SE
神经性蜡样脂褐质病（NCLs）是一组影响儿童和成人的遗传性神经退行性疾病。它们有一些相似的临床特征和自体荧光储存物质的积累。自从第一个致病基因被发现以来，在被诊断为NCL的病例中，已经发现了13个基因的530多个突变。这些基因编码多种功能尚未完全确定的蛋白质；大多数是溶酶体酶，或溶酶体或其他细胞器的跨膜蛋白。这些基因中的许多突变与典型的NCL疾病表型相关。然而，越来越多的变异疾病表型正在被描述，影响发病年龄，严重程度或进展，并包括一些不同的临床表型。这些数据由NCL突变数据库整理，允许从多个角度进行分析。本文将总结和解释目前对其遗传基础和表型异质性的认识和理解。
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders that affect children and adults. They share some similar clinical features and the accumulation of autofluorescent storage material. Since the discovery of the first causative genes, more than 530 mutations have been identified across 13 genes in cases diagnosed with NCL. These genes encode a variety of proteins whose functions have not been fully defined; most are lysosomal enzymes, or transmembrane proteins of the lysosome or other organelles. Many mutations in these genes are associated with a typical NCL disease phenotype. However, increasing numbers of variant disease phenotypes are being described, affecting age of onset, severity or progression, and including some distinct clinical phenotypes. This data is collated by the NCL Mutation Database which allows analysis from many perspectives. This article will summarise and interpret current knowledge and understanding of their genetic basis and phenotypic heterogeneity.
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影响因子：
5.8
作者：
Iwan K;Clayton R;Mills P;Csanyi B;Gissen P;Mole SE;Palmer DN;Mills K;Heywood WE
通讯作者：
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作者：
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通讯作者：
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通讯作者：
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通讯作者：
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影响因子：
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作者：
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