Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis

Chiara Aiello, Alessandra Terracciano, Alessandro Simonati, Giancarlo Discepoli, Natalia Cannelli, Dianela Claps, Yanick J. Crow, Marzia Bianchi, Claudia Kitzmuller, Daniela Longo, Antonietta Tavoni, Emilio Franzoni, Alessandra Tessa, Edwige Veneselli, Renata Boldrini, Mirella Filocamo, Ruth E. Williams, Enrico S. Bertini, Roberta Biancheri, Rosalba CarrozzoSara E. Mole, Filippo M. Santorelli

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
JournalHuman Mutation
Issue number3
Publication statusPublished - Mar 2009


  • CLN7
  • MFSD8
  • NCL
  • Neuronal ceroid lipofuscinosis
  • v-LINCL

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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