GM20382

GM20382 LCL from B-Lymphocyte

Description:

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

Affected:

Yes

Sex:

Female

Age:

26 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; seizures at age 5 years; EM profile showed curvilinear, fingerprint, and granular osmiophillic deposits; 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 1 bp deletion at nucleotide 424 in exon 6 of the CLN3 gene resulting in a frameshift after L141 [c.424delG].

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

1-BP DEL, NT424