GM12318

GM12318 LCL from B-Lymphocyte

Description:

NORRIE DISEASE; NDP - 310600
NORRIN CYSTINE KNOT GROWTH FACTOR NDP; NDP

Affected:

Yes

Sex:

Male

Age:

44 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Chromosome Abnormalities

Class

X Chromosome Markers

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

Other

Ethnicity

COSTA RICAN

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Costa Rican; corneal opacity; atrophy of iris; catarct; nonreactive pupil; fibrous tiss covers retina; diffuse chorioretinal atrophy; severe sensorineural hearing loss with high frequency component; 2 affected brothers; son of GM12315; the donor subject carries a missense mutation in the NDP gene due to a C-to-T transition (CTC>TTC) at nucleotide position 589 which results in the substitution of phenylalanine for leucine [LEU61PHE (L61F)] in exon 3.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

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

Gene

NDP

Chromosomal Location

Xp11.4

Allelic Variant 1

310600.0012; NORRIE DISEASE WITH VENOUS INSUFFICIENCY

Identified Mutation

LEU61PHE; Rehm et al. [Hum. Mutat. 9: 402-408 (1997)] identified a large Costa Rican kindred in which 15 males were afflicted with congenital blindness, progressive hearing loss, and venous insufficiency. Studies of the NDP gene showed a point mutation in the third exon resulting in an leu61-to-phe substitution.

Phenotypic Data

Remarks

Publications

Rehm HL, Gutierrez-Espeleta GA, Garcia R, Jimenez G, Khetarpal U, Priest JM, Sims KB, Keats BJ, Morton CC, Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency. Hum Mutat9(5):402-8 1997

PubMed ID: 9143918