PMID- 23857568
OWN - NLM
STAT- MEDLINE
DCOM- 20140411
LR  - 20181202
IS  - 1708-8283 (Electronic)
IS  - 0883-0738 (Linking)
VI  - 28
IP  - 9
DP  - 2013 Sep
TI  - A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid 
      lipofuscinosis.
PG  - 1106-11
LID - 10.1177/0883073813494267 [doi]
AB  - The neuronal ceroid lipofuscinoses are the most common autosomal recessive 
      neurodegenerative disorders in children, with a worldwide incidence of 1 in 
      100,000 live births. Multiple clinical variants are caused by more than 400 
      mutations in at least 14 different genes. These progressive genetic disorders 
      primarily manifest in the central nervous system because of an extensive loss of 
      neurons, specifically in the cerebral and cerebellar cortices. Patients with 
      mutations in CLN1, which encodes palmitoyl-protein thioesterase 1 (PPT1), 
      primarily manifest with infantile neuronal ceroid lipofuscinosis 
      (Haltia-Santavuori disease). Affected children usually present between 1 and 2 
      years of age and typically die by 8 to 13 years of age. We describe a patient 
      with infantile neuronal ceroid lipofuscinosis with a novel c.776_777insA mutation 
      in CLN1. This insertion induces a frameshift and a premature stop codon late 
      within the CLN1 messenger RNA (mRNA) transcript which is likely recognized by 
      nonsense-mediated translation repression, decreasing PPT1 abundance.
FAU - Miller, Jake N
AU  - Miller JN
AD  - Sanford Children's Health Research Center, Sanford Research, Sioux Falls, SD, 
      USA.
FAU - Pearce, David A
AU  - Pearce DA
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20130714
PL  - United States
TA  - J Child Neurol
JT  - Journal of child neurology
JID - 8606714
RN  - 0 (Membrane Proteins)
RN  - EC 3.1.2.- (Thiolester Hydrolases)
RN  - EC 3.1.2.22 (PPT1 protein, human)
SB  - IM
EIN - J Child Neurol. 2014 May;29(5):NP1
MH  - Child
MH  - Humans
MH  - Male
MH  - Membrane Proteins/*genetics
MH  - Mutation
MH  - Neuronal Ceroid-Lipofuscinoses/*genetics
MH  - Thiolester Hydrolases
OTO - NOTNLM
OT  - Batten disease
OT  - CLN1
OT  - infantile neuronal ceroid lipofuscinosis
OT  - palmitoyl-protein thioesterase 1
EDAT- 2013/07/17 06:00
MHDA- 2014/04/12 06:00
CRDT- 2013/07/17 06:00
PHST- 2013/07/17 06:00 [entrez]
PHST- 2013/07/17 06:00 [pubmed]
PHST- 2014/04/12 06:00 [medline]
AID - 0883073813494267 [pii]
AID - 10.1177/0883073813494267 [doi]
PST - ppublish
SO  - J Child Neurol. 2013 Sep;28(9):1106-11. doi: 10.1177/0883073813494267. Epub 2013 
      Jul 14.