GM20381

GM20381 LCL from B-Lymphocyte

Description:

CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3
CLN3 GENE; CLN3

Affected:

Yes

Sex:

Female

Age:

11 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; vision loss at age 6 years; EM showed fingerprint profile; donor subject is a compound heterozygote: one allele has a 1.02 kb deletion including 217 bp of the open reading frame (nucleotides 598-814), corresponding to 2 exons resulting in a frameshift that generates a termination codon 84 bp downstream of the deletion junction [1-KB DEL, NT598] and a second allele has a G>A transition at nucleotide 10497 in intron 11 of the CLN3 gene resulting in aberrant splicing [IVS11+6G>A].

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Gene

CLN3

Chromosomal Location

16p12.1

Allelic Variant 1

204200.0001; BATTEN DISEASE

Identified Mutation

1-KB DEL, NT598; The International Batten Disease Consortium (1995) demonstrated that the mutation responsible for 73% of Batten disease chromosomes as identified by the 56 haplotype is a genomic deletion of 1.02 kb, including 217 bp of the open reading frame (nucleotides 598-814), corresponding to 2 exons. Deletion of these 217 bp of coding sequence produces a frameshift, generating a TAA termination codon 84 bp downstream of the deletion junction. The predicted translation product is a truncated protein of 181 amino acids consisting of the first 153 residues of the protein, followed by 28 novel amino acids before the stop codon. Even more of the patients in Finland carry the 1.02-kb deletion, namely 90%. Jarvela et al. (1996) developed a rapid diagnostic solid-phase minisequencing test to detect this deletion.

Gene

CLN3

Chromosomal Location

16p12.1

Allelic Variant 2

; BATTEN DISEASE

Identified Mutation

IVS11+6G>A

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