NA25393
DNA from Fibroblast
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 |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Skin
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Country of Origin
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USA
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Family Member
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1
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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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ISCN
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46,XY[19].arr(1-22)x2,(X,Y)x1
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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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| PDL at Freeze |
6.77 |
| Passage Frozen |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
CHM |
| Chromosomal Location |
Xq21.2 |
| Allelic Variant 1 |
; CHOROIDEREMIA |
| Identified Mutation |
c.189+1G>T |
| |
| Gene |
CHM |
| Chromosomal Location |
Xq21.2 |
| Allelic Variant 1 |
non-disease causing; CHOROIDEREMIA |
| Identified Mutation |
ALA117ALA |
| Remarks |
Clinically affected; end stage choroideremia; deteriorated vision in both eyes; severe night blindness; sensitivity to light; decreased visual fields; some loss of color vision; blunt fundus in both eyes; diffuse retinal atrophy; mottled pigmentation; nuclear sclerotic cataract (NSC) 1+ in both eyes; at 56 years of age, eye exam readings for left eye were: MD -31.96 DB (p<0.5%), PSD 2.37 DB (p<2%) and for right eye: MD -32.28 DB (p<0.5%), PSD 1.49 DB; at 57 years of age, foveal thickness measured OD 357, OS 373 and sub-retinal fluid temporal to fovea OS is stable compared to a year earlier, for left eye: MD -32.45 DB (p<0.5%), PSD 1.56 DB and no information on right eye; VC: 20/50-2 PH 20/NI, 20/200+1 PH 20/NI; MR: OD -3.25+1.50x165 20/NI; OS -375+1.25x85 20/NI; W: -3.75+1.25x125, -3.75+1.25x85; DNA sequencing revealed a novel hemizygous G>T nucleotide substitution at position +1 of intron 3 in the CHM gene which may cause aberrant splicing of the mRNA and is a probable highly penetrant disease-causing sequence variant: c.189+1 G>T (formerly reported as IVS3+1 G>T), and a non-disease-causing variant Ala117Ala GCA>GCG; assistive devices: glasses, cane; lymphoblast is GM25392; stem cell line is GM26650. |
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