Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene |
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Authors: | N Zhong Krystyna E Wisniewski Alexandra L Kaczmarski Weina Ju Wei Min Xu William W Xu Lucilla Mclendon B Liu Wojciech Kaczmarski Susan Sklower Brooks W Ted Brown |
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Institution: | (1) Department of Human Genetics, New York State Institute for Basic Research, 1050 Forest Hill Road, Staten Island, NY 10314, USA Tel.: +1-718-494-5242; Fax: +1-718-494-1026; e-mail: OMRDDZHONG@AOL.COM, IS;(2) Department of Pathological Neurobiology, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA, IS;(3) Department of Biology, Long Island University, Brooklyn Campus, Brooklyn, NY 11201, USA, IS;(4) Graduate Program in Biology, Long Island University Brooklyn Campus, Brooklyn, NY 11201, USA, IS |
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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.
Received: 12 May 1997 / Accepted: 21 August 1997 |
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