Hartikainen J M, Ju W, Wisniewski K E, Moroziewicz D N, Kaczmarski A L, McLendon L, Zhong D, Suarez C T, Brown W T, Zhong N
Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314, USA.
Mol Genet Metab. 1999 Jun;67(2):162-8. doi: 10.1006/mgme.1999.2853.
Late infantile neuronal ceroid lipofuscinosis, LINCL, is one of the most common pediatric neurodegenerative disorders. It is caused by mutations in the CLN2 gene, which encodes a lysosomal pepstatin-insensitive peptidase (LPIP). We have identified a novel mutation, T523-1G --> A, by molecular analyses of three unrelated LINCL cases. The mutation was found to affect a 3' intronic splicing acceptor site, resulting in an aberrant mRNA with an insertion of 146 bp of intronic sequence. This causes a frame shift, produces a nonfunctional truncated protein, and results in LINCL.
晚发性婴儿神经元蜡样脂褐质沉积症（LINCL）是最常见的儿童神经退行性疾病之一。它由CLN2基因突变引起，该基因编码一种溶酶体胃蛋白酶抑制剂不敏感肽酶（LPIP）。通过对三例无关的LINCL病例进行分子分析，我们鉴定出一种新的突变，即T523-1G→A。发现该突变影响一个3'内含子剪接受体位点，导致异常mRNA插入146 bp的内含子序列。这会导致移码，产生无功能的截短蛋白，进而导致LINCL。
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