Description:
CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2
CLN2 GENE; CLN2
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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 after 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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| Gene |
CLN2 |
| Chromosomal Location |
11p15.5 |
| Allelic Variant 1 |
; CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 |
| Identified Mutation |
c.376_380+6del |
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| Gene |
CLN2 |
| Chromosomal Location |
11p15.5 |
| Allelic Variant 2 |
607998.0003; CEROID LIPOFUSCINOSIS, NEURONAL 2 |
| Identified Mutation |
ARG208TER; In two sibs with late-infantile neuronal ceroid lipofuscinosis (LINCL), Sleat et al. [Science 277: 1802-1805, (1997)] found compound heterozygosity for a C-to-T transition that resulted in the conversion of codon 208 (CGA) to a stop codon (TGA). In the other allele, the conserved AG of the intronic 3-prime splice junction sequence was changed to AC, which was predicted to result in intron splicing (204500.0004). Each parent possessed a single different mutant allele. |
| Remarks |
Clinically affected; speech and intelligence regression evident at age 2.5 years; seizures at age 3 years; EM showed curvilinear profile; donor subject is a compound heterozygote: one allele has a 11-nucleotide deletion c.376_380+6del and a second allele has a C>T transition at nucleotide 622 in exon 6 of the CLN2 (TPP1) gene [622C>T] resulting in a substitution of a termination signal for arginine at codon 208 [Arg208Ter (R208X)]. |
| De Cock L, D'haenens E, Vantomme L, Backers L, Beyens A, Claes KB, De Clercq G, de Putter R, Kumps C, Schuermans N, Sourbron J, Syryn H, Tavernier S, Vanbelleghem E, Vanakker O, Vandekerckhove B, Van Damme T, Callewaert B, Dheedene A, Vergult S, Menten B, Cracking rare disorders: a new minimally invasive RNA-seq protocol NPJ genomic medicine10:45 2025 |
| PubMed ID: 40436861 |
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| Zhong N, Moroziewicz DN, Ju W, Jurkiewicz A, Johnston L, Wisniewski KE, Brown WT, Heterogeneity of late-infantile neuronal ceroid lipofuscinosis. Genet Med2(6):312-8 2000 |
| PubMed ID: 11339651 |
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