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Table 1 Phenotype variability of the CLN1-patients

From: Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1) – distinct characteristics in neurons

Mutation Allele inherited with Phenotype Reference
  Y109D (c325T > G) LINCL  
M1I (c3G > A)    [42]
  Y247H (c739T > C) JNCL  
F85del (c252-254delCTT) Exon skipping   
   LINCL [17]
  (IVS6-1G > T)   
G108R (c322G > C) R151X (c451C > T) ANCL [14]
L219Q (c656T > A) R151X (c451C > T) JNCL [52]