Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses - PubMed (original) (raw)
. 1994 Oct;55(4):695-701.
Affiliations
- PMID: 7942847
- PMCID: PMC1918303
Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses
M Savukoski et al. Am J Hum Genet. 1994 Oct.
Abstract
We demonstrate here that at least four genetically separate loci are involved in the pathogenesis of human neuronal ceroid lipofuscinoses (NCLs), fatal brain disorders of children. Earlier the assignments of the infantile and juvenile subtypes of NCL to 1p32 and 16p12 had revealed two loci; and here a variant subtype of the late-infantile form of NCL is mapped to a well-defined region on 13q21.1-q32, whereas the clinically similar, classical form of late-infantile NCL was found to represent the fourth, yet-unidentified NCL locus. The linkage disequilibrium was crucial for locus assignment in our highly limited family material, and the data exemplify the significance of this phenomenon in the random mapping of rare human diseases.
Similar articles
- Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis.
Sharp J, Savukoski M, Wheeler RB, Harris J, Järvelä I, Peltonen L, Gardiner M, Williams R. Sharp J, et al. Am J Med Genet. 1995 Jun 5;57(2):348-9. doi: 10.1002/ajmg.1320570249. Am J Med Genet. 1995. PMID: 7668361 - Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
O'Rawe A, Mitchison HM, Williams R, Wheeler R, Andermann E, Andermann F, Hart YM, Martin JJ, Philippart M, Stephenson JB, Gardiner RM, Mole SE. O'Rawe A, et al. Neuropediatrics. 1997 Feb;28(1):21-2. doi: 10.1055/s-2007-973659. Neuropediatrics. 1997. PMID: 9151314 - Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22.
Klockars T, Savukoski M, Isosomppi J, Laan M, Järvelä I, Petrukhin K, Palotie A, Peltonen L. Klockars T, et al. Genomics. 1996 Jul 1;35(1):71-8. doi: 10.1006/geno.1996.0324. Genomics. 1996. PMID: 8661106 - Genetic analysis of Batten disease.
Gardiner RM. Gardiner RM. J Inherit Metab Dis. 1993;16(4):787-90. doi: 10.1007/BF00711910. J Inherit Metab Dis. 1993. PMID: 8412021 Review. - Molecular genetics of neuronal ceroid lipofuscinoses.
Järvelä I, Vesa J, Santavuori P, Hellsten E, Peltonen L. Järvelä I, et al. Pediatr Res. 1992 Dec;32(6):645-8. doi: 10.1203/00006450-199212000-00003. Pediatr Res. 1992. PMID: 1287553 Review.
Cited by
- A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis.
Basak I, Wicky HE, McDonald KO, Xu JB, Palmer JE, Best HL, Lefrancois S, Lee SY, Schoderboeck L, Hughes SM. Basak I, et al. Cell Mol Life Sci. 2021 May;78(10):4735-4763. doi: 10.1007/s00018-021-03813-x. Epub 2021 Apr 1. Cell Mol Life Sci. 2021. PMID: 33792748 Free PMC article. Review. - Mode of action and pharmacogenomic biomarkers for exceptional responders to didemnin B.
Potts MB, McMillan EA, Rosales TI, Kim HS, Ou YH, Toombs JE, Brekken RA, Minden MD, MacMillan JB, White MA. Potts MB, et al. Nat Chem Biol. 2015 Jun;11(6):401-8. doi: 10.1038/nchembio.1797. Epub 2015 Apr 13. Nat Chem Biol. 2015. PMID: 25867045 Free PMC article. - The intracellular location and function of proteins of neuronal ceroid lipofuscinoses.
Ezaki J, Kominami E. Ezaki J, et al. Brain Pathol. 2004 Jan;14(1):77-85. doi: 10.1111/j.1750-3639.2004.tb00501.x. Brain Pathol. 2004. PMID: 14997940 Free PMC article. Review. - The genetic spectrum of human neuronal ceroid-lipofuscinoses.
Mole SE. Mole SE. Brain Pathol. 2004 Jan;14(1):70-6. doi: 10.1111/j.1750-3639.2004.tb00500.x. Brain Pathol. 2004. PMID: 14997939 Free PMC article. Review. - The Finnish Disease Heritage III: the individual diseases.
Norio R. Norio R. Hum Genet. 2003 May;112(5-6):470-526. doi: 10.1007/s00439-002-0877-1. Epub 2003 Mar 8. Hum Genet. 2003. PMID: 12627297 Review.
References
- Brain Dev. 1988;10(2):80-3 - PubMed
- Genomics. 1991 Jun;10(2):333-7 - PubMed
- Neuropediatrics. 1982 Aug;13(3):135-41 - PubMed
- Genomics. 1991 Jan;9(1):170-3 - PubMed
- Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443-6 - PubMed
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Molecular Biology Databases
Miscellaneous