GM20387

GM20387 LCL from B-Lymphocyte

Description:

CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2
CLN2 GENE; CLN2

Affected:

Yes

Sex:

Male

Age:

18 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Lysosomal Storage Diseases

Class

Disorders of the Nervous System

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; intelligence declined at age 2 years; seizures and movement dysfunction at age 2 years; EM showed curvilinear profile; donor subject is a compound heterozygote: one allele has a G>C transversion of the consensus AG 3-prime splice acceptor site immediately preceding 523T of the cDNA sequence in the CLN2 (TPP1) gene [IVS5-1G>C] 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)].

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Gene

CLN2

Chromosomal Location

11p15.5

Allelic Variant 1

607998.0004; CEROID LIPOFUSCINOSIS, NEURONAL 2

Identified Mutation

IVS5AS, G>C, -1; Sleat et al. [Science 277: 1802-1805, (1997)] described compound heterozygosity in 2 sibs with LINCL. One allele carried the arg208-to-ter nonsense mutation (204500.0003); the other allele showed a splice site mutation, a G-to-C transversion of the consensus AG 3-prime splice acceptor site immediately preceding 523T of the cDNA sequence.

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.

Phenotypic Data

Remarks

Publications

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