Description:
CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2
CLN2 GENE; CLN2
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of the Nervous System |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization after cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Gene |
CLN2 |
| Chromosomal Location |
11p15.5 |
| Allelic Variant 1 |
; CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 |
| Identified Mutation |
c.376_380+6del |
| |
| 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)]. |
| 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 |
|
|