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NCL Resource


NAR Molecular Biology Database Collection entry number 142
Mole, S.E.
University College London, United Kingdom

Database Description

The NCL Mutation database (http://www.ucl.ac.uk/NCL) contains published mutations and polymorphisms in the neuronal ceroid lipofuscinoses (NCL) genes together with unpublished data included with permission. It describes approximately 150 mutations in six human genes (CLN1/PPT, CLN2/TPP1, CLN3, CLN5, CLN6, CLN8) and mutations in three naturally occurring animal models (nclf mouse - CLN6; mnd mouse - CLN8; Swedish landrace sheep - CTSD). Mutations are described in terms of nucleotide changes and the predicted effect on the protein. To aid diagnostic services the number of families carrying the mutation and their country of origin is indicated together with any effect on a restriction site. Where possible information pertaining to the severity of disease associated with a given mutation is indicated. The data is drawn from published work and information sent directly to the curator. The numbers representing families carrying a particular mutation will be an underestimate since they do not include those families investigated in diagnostic laboratories

Acknowledgements

The database was set up as part of work funded by the Medical Research Council, United Kingdom

References

1. Mole SE. The genetic spectrum of human neuronal ceroid-lipofuscinoses. Brain Pathol. 2004 Jan;14(1):70-6.
2. Sharp JD, Wheeler RB, Parker KA, Gardiner RM, Williams RE, Mole SE. Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. Hum Mutat. 2003 Jul;22(1):35-42.
3. Mole SE, Zhong NA, Sarpong A, Logan WP, Hofmann S, Yi W, Franken PF, van Diggelen OP, Breuning MH, Moroziewicz D, Ju W, Salonen T, Holmberg V, Jarvela I, Taschner PE. New mutations in the neuronal ceroid lipofuscinosis genes. Eur J Paediatr Neurol. 2001;5 Suppl A:7-10.


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