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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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 LINE assay |
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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 |
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| Gene |
PPT1 |
| Chromosomal Location |
1p32 |
| Allelic Variant 1 |
600722.0001; CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1 |
| Identified Mutation |
ARG122TRP; In 40 of 42 Finnish families with infantile neuronal ceroid lipofuscinosis (256730), Vesa et al. (1995) found an arg122-to-trp mutation in PPT resulting from an A-to-T transversion at nucleotide 364 of their PPT clone. The patients were homozygous and their parents heterozygous for the mutation. In 2 Finnish families the patients had the R122W mutation on one allele; the other allele was not characterized. Of 17 non-Finnish patients, 2 (1 German and 1 Estonian) were homozygous for the same mutation and 2 (1 German and 1 Swedish) were heterozygous. In a British INCL patient, the authors found an additional mutation, an A-to-T transversion at nucleotide 163 in one PPT allele, that lead to a premature stop codon.
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| Gene |
PPT1 |
| Chromosomal Location |
1p32 |
| Allelic Variant 2 |
G42E; CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1 |
| Identified Mutation |
GLY42GLU |
| Remarks |
Clinically affected; visual problems at age 1 year; seizures at age 3 years; movement dysfunction at age 16 years; intelligence declined at age 18 years; EM showed granular osmiophillic deposits; deficient palmitoyl-protein thioesterase 1 activity; donor subject is a compound heterozygote: one allele has an A>T transversion at nucleotide 364 in exon 4 of the PPT1 gene [364A>T] resulting in a substitution of tryptophan for arginine at codon 122 [Arg122Trp (R122W)] and a second allele has a G>A transition at nucleotide 125 in exon 2 of the PPT1 gene [125G>A] resulting in a substitution of glutamic acid for glycine at codon 42 [Gly42Glu (G42E)]. |
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