title: A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal uniparental isodisomy of chromosome 1.
abstract: BACKGROUND
  Infantile neuronal ceroid lipofuscinosis (INCL) is an autosomal recessive disorder starting in infancy as early as 12-month-old, caused by PPT1 (palmitoyl-protein thioesterase 1) mutations, and characterized by progressive psychomotor deterioration, brain atrophy, myoclonic jerk and visual impairment. INCL can be diagnosed by brain magnetic resonance image (MRI) prior to rapid deterioration stage. To date, there is no INCL patient whose manifestation was caused by uniparental isodisomy (UPiD).
  
  
  METHODS
  We reported a girl diagnosed with INCL. Genetic analysis revealed a novel PPT1 mutation c.20_47del28:p.Leu7Hisfs*21. Only the father of the patient was found as a carrier of this mutation. SNP array showed the mutation became homozygous by paternal UPiD of chromosome 1.
  
  
  CONCLUSIONS
  Although ICNL is a rare disease except in Finland, it is not difficult to diagnose it since the clinical symptoms and MRI findings are characteristic. Genetic testing is useful for definitive diagnosis, and distinction of UPiD is essential for genetic counseling.
authors: Center for Medical Genetics, Kanazawa Medical University Hospital, Ishikawa, Japan. Electronic address: niida@kanazawa-med.ac.jp.
authors: Yo
authors: Y
authors: Niida
authors: Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine, Kanazawa University, Ishikawa, Japan.
authors: Ayano
authors: A
authors: Yokoi
authors: Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine, Kanazawa University, Ishikawa, Japan.
authors: Mondo
authors: M
authors: Kuroda
authors: Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine, Kanazawa University, Ishikawa, Japan.
authors: Yusuke
authors: Y
authors: Mitani
authors: Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine, Kanazawa University, Ishikawa, Japan.
authors: Hiroyasu
authors: H
authors: Nakagawa
authors: Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, Ishikawa, Japan.
authors: Mamoru
authors: M
authors: Ozaki
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging; D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1; D003937:Diagnosis, Differential; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008565:Membrane Proteins / Q000235:genetics*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D013869:Thiolester Hydrolases; D024182:Uniparental Disomy / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*
chemical_list: D008565:Membrane Proteins; D013869:Thiolester Hydrolases; C416054:PPT1 protein, human
keywords: CLN1; DNA microarray; Infantile neuronal ceroid lipofuscinosis; PPT1; SNP array; Uniparental isodisomy