| 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. |
