PMID- 17044973
OWN - NLM
STAT- MEDLINE
DCOM- 20100726
LR  - 20221207
IS  - 0578-1310 (Print)
IS  - 0578-1310 (Linking)
VI  - 44
IP  - 7
DP  - 2006 Jul
TI  - [Two novel mutations in palmitoyl-protein thioesterase gene in two Chinese babies 
      with infantile neuronal ceroid lipofuscinosis].
PG  - 496-9
AB  - OBJECTIVE: To search for possible novel mutations in palmitoyl-protein 
      thioesterase 1 (PPT1) gene in two Chinese babies with infantile neuronal ceroid 
      lipofuscinosis (INCL). METHODS: Two probands with INCL, confirmed clinically and 
      pathologically, were used for mutation search in PPT1 gene. Onset of the disease 
      occurred before the age of 1 year and they mainly showed progressive mental and 
      motor retardation. The 9 coding exons and their flanking intron sequences of 
      palmitoyl-protein thioesterase 1 (PPT1) gene were amplified by using PCR and 
      sequenced. The parents of proband 1 were also examined. RESULTS: One splicing 
      mutation and two missense mutations were identified in the two probands: the 
      proband 1 carrying a compound heterozygous mutation of a IVS1 + 1G-->A mutation 
      in intron 1 and a c550G-->A mutation in exon 6 leading to the amino acid 
      substitution of E184K. Additionally, the parents of the proband 1 also harbored 
      one of the mutations of the patient, respectively. The proband 2 carrying a 
      homozygous mutation of c272A-->C in exon 3, which resulted in the amino acid 
      substitutions of Q91P. CONCLUSIONS: The IVS1 + 1G-->A mutation and Q91P mutation 
      are novel mutations, which lead to INCL. The genetic abnormalities of PPT1 in 
      Chinese patients may not be completely the same as those in the patients of other 
      regions of the world.
FAU - Bi, Hong-yan
AU  - Bi HY
AD  - Department of Neurology, Peking University First Hospital, Beijing 100034, China.
FAU - Yao, Sheng
AU  - Yao S
FAU - Bu, Ding-fang
AU  - Bu DF
FAU - Wang, Zhao-xia
AU  - Wang ZX
FAU - Zhang, Ying
AU  - Zhang Y
FAU - Qin, Jiong
AU  - Qin J
FAU - Yang, Yan-ling
AU  - Yang YL
FAU - Yuan, Yun
AU  - Yuan Y
LA  - chi
PT  - Case Reports
PT  - Journal Article
PL  - China
TA  - Zhonghua Er Ke Za Zhi
JT  - Zhonghua er ke za zhi = Chinese journal of pediatrics
JID - 0417427
RN  - 0 (Codon)
RN  - 0 (RNA Splice Sites)
RN  - EC 3.1.2.- (Thiolester Hydrolases)
RN  - EC 3.1.2.22 (palmitoyl-protein thioesterase)
SB  - IM
MH  - Age of Onset
MH  - Asian People
MH  - Base Sequence
MH  - Child, Preschool
MH  - Codon
MH  - DNA Mutational Analysis
MH  - Exons
MH  - Heterozygote
MH  - Humans
MH  - Intellectual Disability/*genetics/physiopathology
MH  - Introns
MH  - Male
MH  - *Mutation
MH  - Mutation, Missense
MH  - Neuronal Ceroid-Lipofuscinoses/diagnosis/*genetics/physiopathology
MH  - Pedigree
MH  - Phenotype
MH  - Polymerase Chain Reaction
MH  - RNA Splice Sites
MH  - Thiolester Hydrolases/*genetics
EDAT- 2006/10/19 09:00
MHDA- 2010/07/27 06:00
CRDT- 2006/10/19 09:00
PHST- 2006/10/19 09:00 [pubmed]
PHST- 2010/07/27 06:00 [medline]
PHST- 2006/10/19 09:00 [entrez]
PST - ppublish
SO  - Zhonghua Er Ke Za Zhi. 2006 Jul;44(7):496-9.