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

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

doi:10.1007/s004390050654

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

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

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, …

Human genetics, Vol.102(1), pp.57-62

01/1998

DOI: https://doi.org/10.1007/s004390050654

PMID: 9490299

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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Title: Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene
Creators: N Zhong - 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
Krystyna E Wisniewski - Department of Pathological Neurobiology, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA IS
Alexandra L Kaczmarski - Department of Pathological Neurobiology, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA IS
Weina Ju - 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
Wei Min Xu - 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
William W Xu - 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
Lucilla Mclendon - 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
B Liu - 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
Wojciech Kaczmarski - Department of Pathological Neurobiology, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA IS
Susan Sklower Brooks - 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
W. Ted Brown - 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
Publication Details: Human genetics, Vol.102(1), pp.57-62
Date published: 01/1998
Publisher: Springer-Verlag
Academic Unit: Pediatrics - Medical Genetics (RWJMS)
Language: English
Resource Type: Journal article
Identifiers: 991031664320504646