PMID- 26846731
OWN - NLM
STAT- MEDLINE
DCOM- 20170112
LR  - 20181202
IS  - 1872-7131 (Electronic)
IS  - 0387-7604 (Linking)
VI  - 38
IP  - 7
DP  - 2016 Aug
TI  - A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 
      mutation and paternal uniparental isodisomy of chromosome 1.
PG  - 674-7
LID - S0387-7604(16)00006-1 [pii]
LID - 10.1016/j.braindev.2016.01.004 [doi]
AB  - 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). PATIENT: 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. DISCUSSION: 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.
CI  - Copyright (c) 2016 The Japanese Society of Child Neurology. Published by Elsevier 
      B.V. All rights reserved.
FAU - Niida, Yo
AU  - Niida Y
AD  - Center for Medical Genetics, Kanazawa Medical University Hospital, Ishikawa, 
      Japan. Electronic address: niida@kanazawa-med.ac.jp.
FAU - Yokoi, Ayano
AU  - Yokoi A
AD  - Department of Pediatrics, Institute of Medical, Pharmaceutical and Health 
      Sciences, School of Medicine, Kanazawa University, Ishikawa, Japan.
FAU - Kuroda, Mondo
AU  - Kuroda M
AD  - Department of Pediatrics, Institute of Medical, Pharmaceutical and Health 
      Sciences, School of Medicine, Kanazawa University, Ishikawa, Japan.
FAU - Mitani, Yusuke
AU  - Mitani Y
AD  - Department of Pediatrics, Institute of Medical, Pharmaceutical and Health 
      Sciences, School of Medicine, Kanazawa University, Ishikawa, Japan.
FAU - Nakagawa, Hiroyasu
AU  - Nakagawa H
AD  - Department of Pediatrics, Institute of Medical, Pharmaceutical and Health 
      Sciences, School of Medicine, Kanazawa University, Ishikawa, Japan.
FAU - Ozaki, Mamoru
AU  - Ozaki M
AD  - Division of Genomic Medicine, Department of Advanced Medicine, Medical Research 
      Institute, Kanazawa Medical University, Ishikawa, Japan.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20160201
PL  - Netherlands
TA  - Brain Dev
JT  - Brain & development
JID - 7909235
RN  - 0 (Membrane Proteins)
RN  - EC 3.1.2.- (Thiolester Hydrolases)
RN  - EC 3.1.2.22 (PPT1 protein, human)
SB  - IM
CIN - Brain Dev. 2017 Feb;39(2):184-185. PMID: 27616753
MH  - Brain/diagnostic imaging
MH  - Child, Preschool
MH  - *Chromosomes, Human, Pair 1
MH  - Diagnosis, Differential
MH  - Female
MH  - Frameshift Mutation
MH  - Humans
MH  - Infant
MH  - Magnetic Resonance Imaging
MH  - Membrane Proteins/*genetics
MH  - Neuronal Ceroid-Lipofuscinoses/diagnosis/*genetics/*physiopathology
MH  - Oligonucleotide Array Sequence Analysis
MH  - Polymorphism, Single Nucleotide
MH  - Thiolester Hydrolases
MH  - Uniparental Disomy/diagnosis/*genetics/*physiopathology
OTO - NOTNLM
OT  - CLN1
OT  - DNA microarray
OT  - Infantile neuronal ceroid lipofuscinosis
OT  - PPT1
OT  - SNP array
OT  - Uniparental isodisomy
EDAT- 2016/02/06 06:00
MHDA- 2017/01/14 06:00
CRDT- 2016/02/06 06:00
PHST- 2015/12/08 00:00 [received]
PHST- 2016/01/07 00:00 [revised]
PHST- 2016/01/13 00:00 [accepted]
PHST- 2016/02/06 06:00 [entrez]
PHST- 2016/02/06 06:00 [pubmed]
PHST- 2017/01/14 06:00 [medline]
AID - S0387-7604(16)00006-1 [pii]
AID - 10.1016/j.braindev.2016.01.004 [doi]
PST - ppublish
SO  - Brain Dev. 2016 Aug;38(7):674-7. doi: 10.1016/j.braindev.2016.01.004. Epub 2016 
      Feb 1.