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Publication : Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene.

First Author  Zhong N Year  1998
Journal  Hum Genet Volume  102
Issue  1 Pages  57-62
PubMed ID  9490299 Mgi Jnum  J:45767
Mgi Id  MGI:1196096 Doi  10.1007/s004390050654
Citation  Zhong N, et al. (1998) Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. Hum Genet 102(1):57-62
abstractText  Batten disease, the juvenile form of neuronal ceroid lipofuscinosis, is a prevalent neuron degenerative disorder of childhood. A 1.02-kb genomic deletion in the Batten disease gene CLN3 has been determined to be a common mutation. We developed a PCR method to screen for this deletion and tested 43 Batten disease probands. We found 36% (31/86) of Batten disease chromosomes did not carry the 1.02-kb deletion. Of the three heterozygotes for the 1.02-kb deletion, a novel G-to-A missense mutation at nucleotide 1020 of the CLN3 cDNA sequence was found on two of the non-1.02-kb deletion chromosomes. The missense mutation resulted in a substitution of glutamic acid (E) by lysine (K) at position 295 (E295 K). The E295 K mutation causes a change in predicted local protein conformation. This glutamic acid is a highly conserved acidic amino acid, being present in human, mouse, dog and yeast, which suggests it may play an important role in the function of the Batten disease protein.
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