Two novel CLN5 mutations in a Portuguese patient with vLINCL: Insights into molecular mechanisms of CLN5 deficiency

Molecular Genetics and Metabolism

Volumn 89, Issue 3, 2006, Pages 245-253

  Bessa, C ^a,b   Teixeira, C A F ^a,b   Mangas, M ^a,b   Dias, A ^a   Sa Miranda M C ^b   Guimaraes A ^c,d   Ferreira, J C ^e   Canas, N ^e,f   Cabral, P ^e   Ribeiro, M G ^a  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

^c HOSPITAL DE SANTO ANTÓNIO   (Portugal)

^d UNIVERSITY OF PORTO   (Portugal)

^e HOSPITAL EGAS MONIZ   (Portugal)

^f UNIVERSITY OF LISBON   (Portugal)

Author keywords

CLN5; Finnish NCL variant; Genotype phenotype correlation; Neuronal ceroid lipofuscinoses; Variant late infantile phenotype

Indexed keywords

ANTIBODY; MESSENGER RNA;

ADOLESCENT; ALLELE; ARTICLE; CASE REPORT; CLN2 GENE; CLN3 GENE; CLN5 GENE; DOWN REGULATION; EXTRACHROMOSOMAL INHERITANCE; FEMALE; FIBROBLAST; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; HUMAN; MOLECULAR MECHANICS; NEUROLOGIC EXAMINATION; NEURONAL CEROID LIPOFUSCINOSIS; NUCLEOTIDE SEQUENCE; PORTUGAL; PRIORITY JOURNAL; WESTERN BLOTTING;

ADOLESCENT; AMINOPEPTIDASES; BASE SEQUENCE; BRAIN; CHILD; CHILD, PRESCHOOL; DIPEPTIDYL-PEPTIDASES AND TRIPEPTIDYL-PEPTIDASES; DNA MUTATIONAL ANALYSIS; ENDOPEPTIDASES; FEMALE; FIBROBLASTS; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENOME, HUMAN; HUMANS; MAGNETIC RESONANCE IMAGING; MEMBRANE GLYCOPROTEINS; MEMBRANE PROTEINS; MOLECULAR CHAPERONES; MOLECULAR SEQUENCE DATA; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; PORTUGAL; RNA, MESSENGER; SERINE PROTEASES; SWEAT GLANDS;

EID: 33748972610     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.04.010     Document Type: Article

References (34)

1. Williams R.E., Gardiner R.M., and Goebel H.H. The European Concerted Action NCL Clinical Case Registry. Mol. Genet. Metab. 66 4 (1999) 407-408
2. Santavuori P. Neuronal ceroid-lipofuscinoses in childhood. Brain Dev. 10 2 (1988) 80-83
3. Vesa J., Hellsten E., Verkruyse L.A., et al. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 376 6541 (1995) 584-587
4. Sleat D.E., Donnelly R.J., Lackland H., et al. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science 277 5333 (1997) 1802-1805
5. Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium. Cell 82 (6) (1995) 949-57.
6. Savukoski M., Klockars T., Holmberg V., et al. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nat. Genet. 19 3 (1998) 286-288
7. Gao H., Boustany R.M., Espinola J.A., et al. Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Am. J. Hum. Genet. 70 2 (2002) 324-335
8. Wheeler R.B., Sharp J.D., Schultz R.A., et al. The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein. Am. J. Hum. Genet. 70 2 (2002) 537-542
9. Ranta S., Zhang Y., Ross B., et al. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nat. Genet. 23 2 (1999) 233-236
10. Verkruyse L.A., Natowicz M.R., and Hofmann S.L. Palmitoyl-protein thioesterase deficiency in fibroblasts of individuals with infantile neuronal ceroid lipofuscinosis and I-cell disease. Biochim. Biophys. Acta 1361 1 (1997) 1-5
11. Sleat D.E., Sohar I., Pullarkat P.S., Lobel P., and Pullarkat R.K. Specific alterations in levels of mannose 6-phosphorylated glycoproteins in different neuronal ceroid lipofuscinoses. Biochem. J. 334 (1998) 547-551
12. Hofmann S.L., Atashband A., Cho S.K., et al. Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2). Curr. Mol. Med. 2 5 (2002) 423-437
13. Pullarkat R.K., and Zawitosky S.E. Glycoconjugate abnormalities in the ceroid-lipofuscinoses. J. Inherit. Metab. Dis. 16 2 (1993) 317-322
14. Palmer D.N., Fearnley I.M., Walker J.E., et al. Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease). Am. J. Med. Genet. 42 4 (1992) 561-567
15. Tyynela J., Suopanki J., Baumann M., et al. Sphingolipid activator proteins (SAPs) in neuronal ceroid lipofuscinoses (NCL). Neuropediatrics 28 1 (1997) 49-52
16. Santavuori P., Rapola J., Sainio K., et al. A variant of Jansky-Bielschowsky disease. Neuropediatrics 13 3 (1982) 135-141
17. Holmberg V., Lauronen L., Autti T., et al. Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5). Neurology 55 4 (2000) 579-581
18. Pineda-Trujillo N., Cornejo W., Carrizosa J., et al. A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset. Neurology 64 4 (2005) 740-742
19. Skoog W.A., and Beck W.S. Studies on the fibrinogen, dextran and phytohemagglutinin methods of isolating leukocytes. Blood 11 5 (1956) 436-454
20. Miller S.A., Dykes D.D., and Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16 3 (1988) 1215
21. Lowry O.H., Rosebrough N.J., Farr A.L., and Randall R.J. Protein measurement with the Folin phenol reagent. J. Biol. Chem. 193 1 (1951) 265-275
22. Van Diggelen O.P., Keulemans J.L.M., Winchester B., Hofman I.L., Vanhanen S.L., Santavuori P., and Voznyi Y.V. A rapid fluorogenic palmitoyl-protein thioesterase assay: Pre- and postnatal diagnosis of INCL. Mol. Genet. Metab. 66 (1999) 240-244
23. Vines D.J., and Warburton M.J. Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I. FEBS Lett. 443 2 (1999) 131-135
24. Teixeira C., Guimaraes A., Bessa C., et al. Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population. J. Neurol. 250 6 (2003) 661-667
25. Laemmli U.K. Cleavage of structural proteins during the Assembly of the Head of Bacteriophage T4. Nature 227 (1970) 680-685
26. Mitchison H.M., Munroe P.B., O'Rawe A.M., et al. Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3. Genomics 40 2 (1997) 346-350
27. Vesa J., Chin M.H., Oelgeschlager K., et al. Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. Mol. Biol. Cell 13 7 (2002) 2410-2420
28. Kappler J., Sommerlade H.J., von Figura K., and Gieselmann V. Complex arylsulfatase A alleles causing metachromatic leukodystrophy. Hum. Mutat. 4 2 (1994) 119-127
29. Grace M.E., Ashton-Prolla P., Pastores G.M., Soni A., and Desnick R.J. Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease. J. Clin. Invest. 103 6 (1999) 817-823
30. Shroyer N.F., Lewis R.A., and Lupski J.R. Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance. Hum. Genet. 106 2 (2000) 244-248
31. Frischmeyer P.A., and Dietz H.C. Nonsense-mediated mRNA decay in health and disease. Hum. Mol. Genet. 8 10 (1999) 1893-1900
32. Isosomppi J., Vesa J., Jalanko A., et al. Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein. Hum. Mol. Genet. 11 8 (2002) 885-891
33. Holmberg V., Jalanko A., Isosomppi J., et al. The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain. Neurobiol. Dis. 16 1 (2004) 29-40
34. Cooper J.D. Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis. Curr. Opin. Neurol. 16 2 (2003) 121-128