Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X)

Clinical Genetics

Volumn 76, Issue 1, 2009, Pages 38-45

  Sarpong, A ^a   Schottmann, G ^b   Ruther K ^b   Stoltenburg, G ^c   Kohlschutter A ^d   Hubner C ^a   Schuelke, Markus ^a,b  

^a Department of Neuropediatrics ^*  (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

Batten disease; CLN3 gene; Ggenotype and phenotype relation; Nonsense mutation

Indexed keywords

GENE PRODUCT; PROTENI CLN3; UNCLASSIFIED DRUG;

ADOLESCENT; ALLELE; ARTICLE; CATALYSIS; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE COURSE; ELECTRON MICROSCOPY; EXON; FAMILY STUDY; FEMALE; GENE DELETION; GENE FUNCTION; GENETIC POLYMORPHISM; GENETIC SCREENING; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LYMPHOCYTE; MALE; MENTAL FUNCTION; MOTOR PERFORMANCE; MUTATIONAL ANALYSIS; NEURONAL CEROID LIPOFUSCINOSIS; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PRIORITY JOURNAL; WILD TYPE;

ADOLESCENT; AGE OF ONSET; AMINO ACID SEQUENCE; CHILD; CHROMOSOME SEGREGATION; DISEASE PROGRESSION; EXONS; FEMALE; FUNDUS OCULI; HUMANS; LEBANON; MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR CHAPERONES; MOLECULAR SEQUENCE DATA; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; OPHTHALMOLOGY; PEDIGREE; YOUNG ADULT;

EID: 67650924287     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01179.x     Document Type: Article

References (24)

1. Santavuori P, Lauronen L, Kirveskari E et al. Neuronal ceroid lipofuscinoses in childhood. Neurol Sci 2000: 21: S35-S41.
2. Siintola E, Lehesjoki AE, Mole SE. Molecular genetics of the NCLs -status and perspectives. Biochim Biophys Acta 2006: 1762: 857-864.
3. Siintola E, Partanen S, Stromme P et al. Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. Brain 2006: 129: 1438-1445.
4. Steinfeld R, Reinhardt K, Schreiber K et al. Cathepsin D deficiency is associated with a human neurodegenerative disorder. Am J Hum Genet 2006: 78: 988-998.
5. Siintola E, Topcu M, Aula N et al. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Am J Hum Genet 2007: 81: 136-146.
6. Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium. Cell 1995: 82: 949-957.
7. Mitchison HM, Munroe PB, O'Rawe AM et al. Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3. Genomics 1997: 40: 346-350.
8. Rakheja D, Narayan SB, Bennett MJ. Juvenile neuronal ceroid-lipofuscinosis (Batten disease): A brief review and update. Curr Mol Med 2007: 7: 603-608.
9. Mole SE, Williams RE, Goebel HH. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics 2005: 6: 107-126.
10. Kohlschutter A, Laabs R, Albani M. Juvenile neuronal ceroid lipofuscinosis (JNCL): Quantitative description of its clinical variability. Acta Paediatr Scand 1988: 77: 867-872.
11. Neitzel H. A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum Genet 1986: 73: 320-326.
12. Marshall FJ, de Blieck EA, Mink JW et al. A clinical rating scale for Batten disease: Reliable and relevant for clinical trials. Neurology 2005: 65: 275-279.
13. Marshman WE, Lee JP, Jones B et al. Duane's retraction syndrome and juvenile Batten's disease: A new association? Aust N Z J Ophthalmol 1998: 26: 251-254.
14. Horiguchi M, Miyake Y. Batten disease -deteriorating course of ocular findings. Jpn J Ophthalmol 1992: 36: 91-96.
15. Wisniewski KE, Zhong N, Kaczmarski W et al. Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis. Ann Neurol 1998: 43: 106-110.
16. Lauronen L, Munroe PB, Jarvela I et al. Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis. Neurology 1999: 52: 360-365.
17. Gachet Y, Codlin S, Hyams JS, Mole SE. btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis. J Cell Sci 2005: 118: 5525-5536.
18. Nugent T, Mole SE, Jones DT. The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data. FEBS Lett 2008: 582: 1019-1024.
19. Phillips SN, Benedict JW, Weimer JM, Pearce DA. CLN3, the protein associated with Batten disease: Structure, function and localization. J Neurosci Res 2005: 79: 573-583.
20. Jarvela I, Lehtovirta M, Tikkanen R et al. Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL). Hum Mol Genet 1999: 8: 1091-1098.
21. Kitzmuller C, Haines RL, Codlin S et al. A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis. Hum Mol Genet 2008: 17: 303-312.
22. Hentze MW, Kulozik AE. A perfect message: RNA surveillance and nonsense-mediated decay. Cell 1999: 96: 307-310.
23. Chang YF, Imam JS, Wilkinson MF. The nonsense-mediated decay RNA surveillance pathway. Annu Rev Biochem 2007: 76: 51-74.
24. Chan CH, Mitchison HM, Pearce DA. Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models. Hum Mol Genet 2008: 17: 3332-3339.