Molecular screening of Batten disease : identification of a missense mutation (E295K) in the CLN3 gene
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 B...
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| Veröffentlicht in: | Human genetics 1998-01, Vol.102 (1), p.57-62 |
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| container_title | Human genetics |
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| creator | ZHONG, N WISNIEWSKI, K. E BROWN, W. T KACZMARSKI, A. L JU, W WEI MIN XU XU, W. W MCLENDON, L LIU, B KACZMARSKI, W BROOKS, S. S |
| description | 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. |
| doi_str_mv | 10.1007/s004390050654 |
| format | Article |
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E ; BROWN, W. T ; KACZMARSKI, A. L ; JU, W ; WEI MIN XU ; XU, W. W ; MCLENDON, L ; LIU, B ; KACZMARSKI, W ; BROOKS, S. S</creator><creatorcontrib>ZHONG, N ; WISNIEWSKI, K. E ; BROWN, W. T ; KACZMARSKI, A. L ; JU, W ; WEI MIN XU ; XU, W. W ; MCLENDON, L ; LIU, B ; KACZMARSKI, W ; BROOKS, S. S</creatorcontrib><description>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. 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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.</description><subject>Alternative Splicing</subject><subject>Amino Acid Sequence</subject><subject>Amino Acid Substitution - genetics</subject><subject>Animals</subject><subject>Biological and medical sciences</subject><subject>Dogs</subject><subject>Errors of metabolism</subject><subject>Gene Deletion</subject><subject>Genetic Testing</subject><subject>Glutamic Acid - genetics</subject><subject>Humans</subject><subject>Lipids (lysosomal enzyme disorders, storage diseases)</subject><subject>Lysine - genetics</subject><subject>Medical sciences</subject><subject>Membrane Glycoproteins</subject><subject>Metabolic diseases</subject><subject>Mice</subject><subject>Molecular Chaperones</subject><subject>Molecular Sequence Data</subject><subject>Neuronal Ceroid-Lipofuscinoses - genetics</subject><subject>Point Mutation</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Genetic</subject><subject>Proteins - genetics</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVkL1PwzAQxS0EKqUwMiJ5QAiGwNmO65oNqvIhCiwwR65zLkaJU-Jk4L_HVatKTHd676enu0fIKYNrBqBuIkAuNICEscz3yJDlgmeMg9gnQxA5ZGPF1CE5ivEbgEnN5YAMdK6Baz0k7rWp0PaVaWm0LWLwYUkbR-9N12GgpY9oItJb6ksMnXfems43YY0YWvsYMSS77ruNfDnjWr5cUR9o94V0On8TdIkBj8mBM1XEk-0ckc-H2cf0KZu_Pz5P7-aZFUx32UIp4ZgCOZYOtUwLLLSY5EaCnUys4wueRANMlelZ7koOTibXWauNyLkYkYtN7qptfnqMXZFutFhVJmDTx0Jpte6AJTDbgLZtYmzRFavW16b9LRgU616Lf70m_mwb3C9qLHf0tsjkn299E62pXGuC9XGHccaVzJX4A0ybfNc</recordid><startdate>19980101</startdate><enddate>19980101</enddate><creator>ZHONG, N</creator><creator>WISNIEWSKI, K. 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W</au><au>MCLENDON, L</au><au>LIU, B</au><au>KACZMARSKI, W</au><au>BROOKS, S. S</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Molecular screening of Batten disease : identification of a missense mutation (E295K) in the CLN3 gene</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>1998-01-01</date><risdate>1998</risdate><volume>102</volume><issue>1</issue><spage>57</spage><epage>62</epage><pages>57-62</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><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.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>9490299</pmid><doi>10.1007/s004390050654</doi><tpages>6</tpages></addata></record> |
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| subjects | Alternative Splicing Amino Acid Sequence Amino Acid Substitution - genetics Animals Biological and medical sciences Dogs Errors of metabolism Gene Deletion Genetic Testing Glutamic Acid - genetics Humans Lipids (lysosomal enzyme disorders, storage diseases) Lysine - genetics Medical sciences Membrane Glycoproteins Metabolic diseases Mice Molecular Chaperones Molecular Sequence Data Neuronal Ceroid-Lipofuscinoses - genetics Point Mutation Polymerase Chain Reaction Polymorphism, Genetic Proteins - genetics |
| title | Molecular screening of Batten disease : identification of a missense mutation (E295K) in the CLN3 gene |
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