Abstract
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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Received: 12 May 1997 / Accepted: 21 August 1997
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Zhong, N., Wisniewski, K., Kaczmarski, A. et al. Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. Hum Genet 102, 57–62 (1998). https://doi.org/10.1007/s004390050654
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DOI: https://doi.org/10.1007/s004390050654