Literature DB >> 9391897

Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR.

P E Taschner1, N de Vos, M H Breuning.   

Abstract

The recent isolation of the CLN3 gene involved in Batten disease (juvenile neuronal ceroid lipofuscinosis) creates possibilities for direct detection of mutations which can confirm or indicate the clinical diagnosis of Batten disease. We have designed a rapid and reliable allele specific PCR test for the detection of the major deletion, which can be used in carrier diagnosis, presymptomatic diagnosis, and prenatal diagnosis.

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Year:  1997        PMID： 9391897      PMCID： PMC1051131          DOI： 10.1136/jmg.34.11.955

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  5 in total

1.  Rapid diagnostic test for the major mutation underlying Batten disease.

Authors:  I Järvelä; H M Mitchison; P B Munroe; A M O'Rawe; S E Mole; A C Syvänen
Journal:  J Med Genet       Date:  1996-12       Impact factor: 6.318

2.  Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3.

Authors:  H M Mitchison; P B Munroe; A M O'Rawe; P E Taschner; N de Vos; G Kremmidiotis; I Lensink; A C Munk; K L D'Arigo; J W Anderson; T J Lerner; R K Moyzis; D F Callen; M H Breuning; N A Doggett; R M Gardiner; S E Mole
Journal:  Genomics       Date:  1997-03-01       Impact factor: 5.736

3.  Diagnosis of neuronal ceroid lipofuscinosis by ultrastructural examination of peripheral blood lymphocytes.

Authors:  R D Brod; A J Packer; H J Van Dyk
Journal:  Arch Ophthalmol       Date:  1987-10

4.  Carrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis).

Authors:  P E Taschner; N de Vos; J G Post; E J Meijers-Heijboer; I Hofman; M C Loonen; A J Pinckers; E M Bleeker-Wagemakers; R M Gardiner; M H Breuning
Journal:  Am J Med Genet       Date:  1995-06-05

5.  Prenatal diagnosis of Batten's disease.

Authors:  P B Munroe; J Rapola; H M Mitchison; A Mustonen; S E Mole; R M Gardiner; I Jarvela
Journal:  Lancet       Date:  1996-04-13       Impact factor: 79.321
  5 in total
  4 in total

1.  Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease.

Authors:  Paul G Rothberg; Denia Ramirez-Montealegre; Sharon D Frazier; David A Pearce
Journal:  J Mol Diagn       Date:  2004-08       Impact factor: 5.568

2.  An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3.

Authors:  Céline Pebrel-Richard; Anne Debost-Legrand; Eléonore Eymard-Pierre; Victoria Greze; Stéphan Kemeny; Mathilde Gay-Bellile; Laetitia Gouas; Andreï Tchirkov; Philippe Vago; Carole Goumy; Christine Francannet
Journal:  Eur J Hum Genet       Date:  2013-07-17       Impact factor: 4.246

3.  Clinical implementation of gene panel testing for lysosomal storage diseases.

Authors:  Alexander Gheldof; Sara Seneca; Katrien Stouffs; Willy Lissens; Anna Jansen; Hilde Laeremans; Patrick Verloo; An-Sofie Schoonjans; Marije Meuwissen; Diana Barca; Geert Martens; Linda De Meirleir
Journal:  Mol Genet Genomic Med       Date:  2018-12-11       Impact factor: 2.183

Review 4.  The CLN3 gene and protein: What we know.

Authors:  Myriam Mirza; Anna Vainshtein; Alberto DiRonza; Uma Chandrachud; Luke J Haslett; Michela Palmieri; Stephan Storch; Janos Groh; Niv Dobzinski; Gennaro Napolitano; Carolin Schmidtke; Danielle M Kerkovich
Journal:  Mol Genet Genomic Med       Date:  2019-09-30       Impact factor: 2.183
  4 in total

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