Description:
CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1
PALMITOYL-PROTEIN THIOESTERASE 1; PPT1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of the Nervous System |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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IRISH/WELSH/ENGLISH/GERMAN/NORWEGIAN
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| palmitoyl-protein hydrolase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.2.22; 6-20% activity. |
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| Gene |
PPT1 |
| Chromosomal Location |
1p32 |
| Allelic Variant 1 |
600722.0006; CEROID LIPOFUSCINOSIS, JUVENILE NEURONAL, WITH GRANULAR OSMIOPHILIC |
| Identified Mutation |
ARG151TER; In 7 of 22 disease chromosomes from 11 patients with the JNCL/GROD (600680) variant, Mitchison et al. (1998) found an arg151-to-ter (R151X) nonsense mutation. In each case it was found in compound heterozygous state with a missense mutation.
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| Remarks |
IBR-BD Registry #1652/UT11-01; cognitive/motor deterioration at 12 months; granular osmiophilic deposits (GROD); palmitoyl-protein thioesterase activity <0.2 pmoles/min/mg of protein (normal range, 1-3 pmoles/min/mg of protein); compound heterozygote; one allele carries an arg151-to-ter nonsense mutation resulting from a C-to-T substitution at nucleotide 451 [ARG151TER (R151X)] in exon 5 of the palmitoyl-protein thioesterase 1 (PPT1) gene; the second allele carries a his 39-to-gln missense mutation in exon 1 resulting from a T to-A transversion at nucleotide 117 [HIS39GLN
(H39Q)] |
| Das, A, Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. J Clin Invest102(1998):361-370 1998 |
| PubMed ID: 9664077 |
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