Related resources
Full-text held externally
- DOI: 10.1002/humu.20975
Search for item elsewhere
University researcher(s)
Academic department(s)
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
Aiello, C, Terracciano, A, Simonati, A, Discepoli, G, Cannelli, N, Claps, D, Crow, YJ, Bianchi, M, Kitzmuller, C, Longo, D, Tavoni, A, Franzoni, E, Tessa, A, Veneselli, E, Boldrini, R, Filocamo, M, Williams, R, Bertini, E, Biancheri, R, Carrozzo, R, Mole, S, Santorelli, F
Hum Mutat. 2009;.
Access to files
Full-text and supplementary files are not available from Manchester eScholar. Full-text is available externally using the following links:
Full-text held externally
- DOI: 10.1002/humu.20975
Abstract
The neuronal ceroid lipofuscinoses (NCL) are a group of genetically heterogeneous neurodegenerative disorders. The recent identification of the MFSD8/CLN7 gene in a variant-late infantile form of NCL (v-LINCL) in affected children from Turkey prompted us to examine the relative frequency of variants in this gene in Italian patients with v-LINCL. We identified nine children harboring 11 different mutations in MFSD8/CLN7. Ten mutations were novel and included three nonsense (p.Arg35Stop, p.Glu381Stop, p.Arg482Stop), four missense (p.Met1Thr, p.Gly52Arg, p.Thr294Lys, p.Pro447Leu), two splice site mutations (c.863+3_4insT, c.863+1G>C), and a 17-bp deletion predicting a frameshift and premature protein truncation (c.627_643del17/p.Met209IlefsX3). The clinical phenotype, which was similar to that of the Turkish v-LINCL cases, was not influenced by type and location of the mutation nor the length of the predicted residual gene product. As well as identifying novel variants in MFSD8/CLN7, this study contributes to a better molecular characterization of Italian NCL cases, and will facilitate medical genetic counseling in such families. The existence of a subset of v-LINCL cases without mutations in any of the known NCL genes suggests further genetic heterogeneity. (c) 2009 Wiley-Liss, Inc.