GM17433

GM17433 LCL from B-Lymphocyte

Description:

GALACTOSEMIA
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT

Affected:

Yes

Sex:

Male

Age:

No Data

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Carbohydrate Metabolism

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Family Member

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; affected brother is GM17436; donor subject is a compound heterozygote: one allele carries an A-to-G transition at nucleotide 591 (591A>G) in the GALT gene, resulting in a gln188-to-arg substitution [GLN188ARG (Q188R)] and the second allele carries a T to C transition at nucleotide 249 (249T>C), resulting in an leu74-to-pro substitution [LEU74PRO (L74P)].

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

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

Gene

GALT

Chromosomal Location

9p13

Allelic Variant 1

606999.0006; GALACTOSEMIA

Identified Mutation

GLN188ARG; Reichardt et al. [Am J Hum Genet 49: 860 (1991)] demonstrated a transition at nucleotide 591 that substituted arginine for glutamine-188. The mutated glutamine is not only highly conserved in evolution, but is also 2 amino acid residues downstream from the active site histidine-proline-histidine triad. Lymphoblasts from subjects homozygous for the GLN188ARG mutation show essentially no detectable GALT activity [Fridovich-Keil and Jinks-Robertson. Proc Nat Acad Sci USA 90: 398 (1993)].

Gene

GALT

Chromosomal Location

9p13

Allelic Variant 2

606999.0007; GALACTOSEMIA

Identified Mutation

LEU74PRO; Reichardt et al. [Biochemistry 31: 5430-5433 (1992)] characterized two galactosemia (230400) mutations, L74P and F171S (606999.0008), and one polymorphism, S135L, in the GALT gene. Both mutations resulted in reduced enzymatic activity on expression studies, whereas the polymorphism resulted in near normal activity. Both mutations involved evolutionarily conserved residues, while the polymorphism occurred in a nonconserved domain.

Phenotypic Data

Remarks

Publications

Yeeok Kang, Seong-Hyeuk Nam, Kyung Sun Park, Yoonjung Kim, Jong-Won Kim, Eunjung Lee, Jung Min Ko, Kyung-A Lee and Inho ParkEmail, DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data BMC Bioinformatics19: 2018

PubMed ID: 30326846