GM12011

GM12011 LCL from B-Lymphocyte

Description:

LESCH-NYHAN SYNDROME; LNS
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1; HPRT

Affected:

Yes

Sex:

Male

Age:

17 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Nucleotide and Nucleic Acid Metabolism

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Line RJK2256; 6% of control HPRT activity in RBC; self mutilation; HPRT1 gene shows a single base mutation, A>G, in exon 9 resulting in substitution of Arg for His in codon 203 {His203Arg (H203R)}

Characterizations

hypoxanthine phosphoribosyltransferase

According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.4.2.8; 6% activity.

IDENTIFICATION OF SPECIES OF ORIGIN

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

Gene

HPRT1

Chromosomal Location

Xq26-q27.2

Allelic Variant 1

308000.0019; LESCH-NYHAN SYNDROME

Identified Mutation

HIS203ASP; Gibbs et al. [Proc. Natl. Acad. Sci. USA 86: 1919 (1989)] described this mutation in cell line RJK1874 from a patient with LNS. Gibbs et al. [Genomics 7: 235 (1990)] found the same mutation in an unrelated patient with LNS (RJK2019).

Phenotypic Data

Remarks

Line RJK2256; 6% of control HPRT activity in RBC; self mutilation; HPRT1 gene shows a single base mutation, A>G, in exon 9 resulting in substitution of Arg for His in codon 203 {His203Arg (H203R)}