GM10711

GM10711 LCL from B-Lymphocyte

Description:

TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT
ENDOGLIN; ENG

Affected:

Yes

Sex:

Female

Age:

46 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Uncertain Biochemical Etiology

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

paternal cousin

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected paternal cousin of GM10228; telangiectasias on lips, tongue, palate, & fingers; nosebleeds; anemia; numerous hospitalizations for coil embolization of lungs; the donor subject carries a G-to-C nucleotide substitution at position 1311 (G1311C) of the ENG gene which creates a splice site mutation within the last coding base of exon 9B.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

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

Gene

ENG

Chromosomal Location

9q34.1

Allelic Variant 1

disrupts 3’ splice site; HEREDITARY HEMORRHAGIC TELANGIECTASIA

Identified Mutation

1311G>C

Phenotypic Data

Remarks

Publications

Gallione CJ, Klaus DJ, Yeh EY, Stenzel TT, Xue Y, Anthony KB, McAllister KA, Baldwin MA, Berg JN, Lux A, Smith JD, Vary CP, Craigen WJ, Westermann CJ, Warner ML, Miller YE, Jackson CE, Guttmacher AE, Marchuk DA, Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles. Hum Mutat11(4):286-94 1998

PubMed ID: 9554745

McDonald MT, Papenberg KA, Ghosh S, Glatfelter AA, Biesecker BB, Helmbold EA, Markel DS, Zolotor A, McKinnon WC, Vanderstoep JL, et al, A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. Nat Genet6(2):197-204 1994

PubMed ID: 8162075