GM16080

GM16080 LCL from B-Lymphocyte

Description:

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

Affected:

Yes

Sex:

Male

Age:

17 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable 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

Race

White

Ethnicity

SCOTTISH/IRISH/GERMAN/HUNGARIAN

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

IBR-BD Registry #1210/BD037; age of onset of 7 years; progressive visual difficulties; granular osmiophilic deposits (GROD) mixed with curvilinear and fingerprint profiles; palmitoyl-protein thioesterase activity <0.2 pmoles/min/mg of protein (normal range, 1-3 pmoles/min/mg of protein); compound heterozygote; one allele carries an arg151-to-ter nonsense mutation resulting from a C-to-T substitution at nucleotide 451 [ARG151TER (R151X)] in exon 5 of the palmitoyl-protein thioesterase 1 (PPT1) gene; a second allele carries a thr 75-to-pro missense mutation in exon 2 resulting from an A to-C transversion at nucleotide 223 [THR75PRO(T75P)].

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

palmitoyl-protein hydrolase

According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.2.22; 6-20% activity.

Gene

PPT1

Chromosomal Location

1p32

Allelic Variant 1

600722.0006; CEROID LIPOFUSCINOSIS, JUVENILE NEURONAL, WITH GRANULAR OSMIOPHILIC

Identified Mutation

ARG151TER; In 7 of 22 disease chromosomes from 11 patients with the JNCL/GROD (600680) variant, Mitchison et al. (1998) found an arg151-to-ter (R151X) nonsense mutation. In each case it was found in compound heterozygous state with a missense mutation.

Gene

PPT1

Chromosomal Location

1p32

Allelic Variant 2

600722.0002; CEROID LIPOFUSCINOSIS, JUVENILE NEURONAL, WITH GRANULAR OSMIOPHILIC

Identified Mutation

THR75PRO; Mitchison et al. (1998) found that a thr75-to-pro (T75P) missense mutation accounted for 9 of 22 disease chromosomes in 11 patients with juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits (600680). In 1 of the 11 patients the T75P was homozygous; in 7 others it was present in compound heterozygous state with a nonsense mutation, either arg151-to-ter (R151X) or leu10-to-ter (L10X).