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GM03857 LCL from B-Lymphocyte

Description:

CONGENITAL OPTIC ATROPHY, TYPE UNKNOWN

Affected:

Yes

Sex:

Male

Age:

33 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of the Mitochondrial Genome
Class Ophthalmologic Disorders
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity JEWISH
Country of Origin USA
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; onset in mid-20's with decreased distance and near acuity; gradual deterioration in acuity from mid 20s to 40s;decreased bilateral visual acuity (20/200 in both eyes without correction); blue-green discrimination problems noticed since childhood, Farnsworth Dichotomous Test for color blindness suggestive of mixed protan and deutan deficiency in the right eye and protan deficiency in the left eye; color vision testing with Ishiara plates was markedly abnormal; Dilated fundus exam demonstrated nearly identical findings in both eyes-a sharp disc margin with a 0.25-0.3 cup/disc ratio and slight temporal pallor (2-3+ temporal greater than nasal pallor with a marked decrease in nerve fiber layer); vessels had a "pipes-on-the-ground" appearance; ERG noted bilateral optic atrophy and deuteranomaly and excluded a diagnosis of wide-spread cone degeneration; visual field examinations revealed increased threshold sensitivity centrally and small frequent eye movements straying from fixation; increasing sensitivity to light; Goldmann visual field test demonstrated a small central scotoma not involving the blind spot present in both eyes; markedly decreased contrast sensitivity bilaterally; mitochondrial DNA retains the Sfa NI restriction site, indicating subject is negative for Leber's optic atrophy; past medical history includes: Hodgkin's disease (stage IIb) treated with radiation and chemotherapy (nitrogen mustard), seizure disorder (brain scan, EEG, and arteriogram showed large A-V malformation in the right parasaggital region), hypothyroidism (as a result of radiation therapy); medications include: Dilantin, Depakene, Synthroid; see GM03858 (fibro) affected brother is GM10624 (lymph) and GM10625 (fibro).

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.
 
MITOCHONDRIAL DNA ANALYSIS Wallace et al (Science 242:1427-1430,1988) reported that a mitochondrial DNA replacement was detected in individuals from multiple families with Leber's optic atrophy. This mutation converted a highly conserved arginine to a histidine at codon 340 in the NADH dehydrogenase subunit 4 gene and eliminated an Sfa NI site. Mitochondrial DNA from this cell culture was found to retain the Sfa NI site.
 

Phenotypic Data

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Remarks Clinically affected; onset in mid-20's with decreased distance and near acuity; gradual deterioration in acuity from mid 20s to 40s;decreased bilateral visual acuity (20/200 in both eyes without correction); blue-green discrimination problems noticed since childhood, Farnsworth Dichotomous Test for color blindness suggestive of mixed protan and deutan deficiency in the right eye and protan deficiency in the left eye; color vision testing with Ishiara plates was markedly abnormal; Dilated fundus exam demonstrated nearly identical findings in both eyes-a sharp disc margin with a 0.25-0.3 cup/disc ratio and slight temporal pallor (2-3+ temporal greater than nasal pallor with a marked decrease in nerve fiber layer); vessels had a "pipes-on-the-ground" appearance; ERG noted bilateral optic atrophy and deuteranomaly and excluded a diagnosis of wide-spread cone degeneration; visual field examinations revealed increased threshold sensitivity centrally and small frequent eye movements straying from fixation; increasing sensitivity to light; Goldmann visual field test demonstrated a small central scotoma not involving the blind spot present in both eyes; markedly decreased contrast sensitivity bilaterally; mitochondrial DNA retains the Sfa NI restriction site, indicating subject is negative for Leber's optic atrophy; past medical history includes: Hodgkin's disease (stage IIb) treated with radiation and chemotherapy (nitrogen mustard), seizure disorder (brain scan, EEG, and arteriogram showed large A-V malformation in the right parasaggital region), hypothyroidism (as a result of radiation therapy); medications include: Dilantin, Depakene, Synthroid; see GM03858 (fibro) affected brother is GM10624 (lymph) and GM10625 (fibro).

Publications

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Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ 2d, Nikoskelainen EK, Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science242:1427-30 1988
PubMed ID: 3201231

External Links

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dbSNP dbSNP ID: 10702

Culture Protocols

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Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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