Description:
CHOROIDEREMIA; CHM
CHM GENE; CHM
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Irish
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Country of Origin
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USA
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Family History
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Y
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
CHM |
| Chromosomal Location |
Xq21.2 |
| Allelic Variant 1 |
R239X; CHOROIDEREMIA |
| Identified Mutation |
c.887 C>T |
| |
| Gene |
CHM |
| Chromosomal Location |
Xq21.2 |
| Allelic Variant 1 |
; CHOROIDEREMIA |
| Identified Mutation |
295 A>T |
| Remarks |
Clinically affected; symptom onset at 4 years of age; diagnosed at age 8 years; at 20 years of age, subject reported declining vision in right eye; examination revealed the following results: visual acuity (OD:4/200 with eccentric fixation, OS:20/30, read J5), pressures with tonopen (OD:18 mm Hg, OS:18 mm Hg), slit lamp examination (OU:within normal limits), fundus findings (OU: Heavy loss of retinal pigment epithelium and choriocapillaris in both eyes); legally blind with visual fields of less than 5 degrees with the 3mm (III-4-e) test object in both eyes; genetic testing revealed hemizygous mutation in exon 7 of the CHM gene: c.877 C>T, p.Arg293Stop (R293X); subject also hemizygous for a suspected rare polymorphism in exon 4 of the CHM gene (295A>T); medications/supplements: antioxidant vitamins; assistive device: white cane. |
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