A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis

Neurogenetics

Volumn 10, Issue 1, 2009, Pages 73-77

  Stogmann, E ^a   El Tawil, S ^b   Wagenstaller, J ^c   Gaber, A ^b   Edris, S ^b   Abdelhady, A ^b   Assem Hilger, E ^a   Leutmezer, F ^a   Bonelli, S ^a   Baumgartner, C ^a   Zimprich, F ^a   Strom, T M ^c,d   Zimprich, A ^a  

^a UNIVERSITY OF VIENNA   (Austria)

^b AIN SHAMS UNIVERSITY   (Egypt)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d TECHNICAL UNIVERSITY OF MUNICH   (Germany)

Author keywords

MFSD8 gene; Missense mutation; Neuronal ceroid lipofuscinosis

Indexed keywords

CARRIER PROTEIN; PROTEIN MSFD 8; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; ELECTROENCEPHALOGRAM; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC LINKAGE; HUMAN; HUMAN TISSUE; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; NEURONAL CEROID LIPOFUSCINOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SKIN BIOPSY;

ADOLESCENT; BASE SEQUENCE; CHILD; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EGYPT; FEMALE; GENOTYPE; HUMANS; LINKAGE (GENETICS); MALE; MEMBRANE TRANSPORT PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; PEDIGREE;

EID: 58649093752     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-008-0153-1     Document Type: Article

References (17)

1. M Haltia 2006 The neuronal ceroid-lipofuscinoses: from past to present Biochim Biophys Acta 1762 10 850 856
2. M Haltia 2003 The neuronal ceroid-lipofuscinoses J Neuropathol Exp Neurol 62 1 1 13
3. P Santavuori L Lauronen K Kirveskari L Aberg K Sainio 2000 Neuronal ceroid lipofuscinoses in childhood Suppl Clin Neurophysiol 53 443 451
4. HH Goebel KE Wisniewski 2004 Current state of clinical and morphological features in human NCL Brain Pathol 14 1 61 69
5. KE Wisniewski N Zhong M Philippart 2001 Pheno/genotypic correlations of neuronal ceroid lipofuscinoses Neurology 57 4 576 581
6. E Siintola AE Lehesjoki SE Mole 2006 Molecular genetics of the NCLs-status and perspectives Biochim Biophys Acta 1762 10 857 864
7. SE Mole 2006 Neuronal ceroid lipofuscinoses (NCL) Eur J Paediatr Neurol 10 5-6 255 257
8. SE Mole 2004 The genetic spectrum of human neuronal ceroid-lipofuscinoses Brain Pathol 14 1 70 76
9. RE Williams L Aberg T Autti HH Goebel A Kohlschutter T Lonnqvist 2006 Diagnosis of the neuronal ceroid lipofuscinoses: an update Biochim Biophys Acta 1762 10 865 872
10. R Steinfeld P Heim H von Gregory K Meyer K Ullrich HH Goebel 2002 Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations Am J Med Genet 112 4 347 354
11. N Zhong DN Moroziewicz W Ju A Jurkiewicz L Johnston KE Wisniewski 2000 Heterogeneity of late-infantile neuronal ceroid lipofuscinosis Genet Med 2 6 312 318
12. E Siintola M Topcu N Aula H Lohi BA Minassian AD Paterson 2007 The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter Am J Hum Genet 81 1 136 146
13. M Topcu H Tan D Yalnizoglu A Usubutun I Saatci M Aynaci 2004 Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies Turk J Pediatr 46 1 1 10
14. F Ruschendorf P Nurnberg 2005 ALOHOMORA: a tool for linkage analysis using 10K SNP array data Bioinformatics 21 9 2123 2125
15. DF Gudbjartsson K Jonasson ML Frigge A Kong 2000 Allegro, a new computer program for multipoint linkage analysis Nat Genet 25 1 12 13
16. C Bessa CA Teixeira A Dias M Alves S Rocha L Lacerda 2008 CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype Mol Genet Metab 93 1 66 73
17. M Chang JD Cooper DE Sleat SH Cheng JC Dodge MA Passini 2008 Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis Mol Ther 16 4 649 656