GM20379

GM20379 LCL from B-Lymphocyte

Description:

CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1
PALMITOYL-PROTEIN THIOESTERASE 1; PPT1

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; visual problems at age 1 year; seizures at age 3 years; movement dysfunction at age 16 years; intelligence declined at age 18 years; EM showed granular osmiophillic deposits; deficient palmitoyl-protein thioesterase 1 activity; donor subject is a compound heterozygote: one allele has an A>T transversion at nucleotide 364 in exon 4 of the PPT1 gene [364A>T] resulting in a substitution of tryptophan for arginine at codon 122 [Arg122Trp (R122W)] and a second allele has a G>A transition at nucleotide 125 in exon 2 of the PPT1 gene [125G>A] resulting in a substitution of glutamic acid for glycine at codon 42 [Gly42Glu (G42E)].

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

palmitoyl-protein hydrolase

According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.2.22

Gene

PPT1

Chromosomal Location

1p32

Allelic Variant 1

600722.0001; CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1

Identified Mutation

ARG122TRP; In 40 of 42 Finnish families with infantile neuronal ceroid lipofuscinosis (256730), Vesa et al. (1995) found an arg122-to-trp mutation in PPT resulting from an A-to-T transversion at nucleotide 364 of their PPT clone. The patients were homozygous and their parents heterozygous for the mutation. In 2 Finnish families the patients had the R122W mutation on one allele; the other allele was not characterized. Of 17 non-Finnish patients, 2 (1 German and 1 Estonian) were homozygous for the same mutation and 2 (1 German and 1 Swedish) were heterozygous. In a British INCL patient, the authors found an additional mutation, an A-to-T transversion at nucleotide 163 in one PPT allele, that lead to a premature stop codon.

Gene

PPT1

Chromosomal Location

1p32

Allelic Variant 2

G42E; CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1

Identified Mutation

GLY42GLU