Description:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5
FUKUTIN-RELATED PROTEIN; FKRP
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies
CMD Specific |
| Class |
Congenital Muscle Diseases |
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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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Race
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White
|
|
Ethnicity
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Not Hispanic/Latino
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|
Family Member
|
1
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|
Family History
|
N
|
|
Relation to Proband
|
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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|
| PDL at Freeze |
4.23 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
FKRP |
| Chromosomal Location |
19q13.3 |
| Allelic Variant 1 |
; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 |
| Identified Mutation |
826C>A |
| |
| Gene |
FKRP |
| Chromosomal Location |
19q13.3 |
| Allelic Variant 1 |
; |
| Identified Mutation |
c.135C>T; silent mutation |
| |
| Gene |
FKRP |
| Chromosomal Location |
19q13.3 |
| Allelic Variant 2 |
; |
| Identified Mutation |
c.135C>T; silent mutation |
| |
| Gene |
FKRP |
| Chromosomal Location |
19q13.3 |
| Allelic Variant 2 |
; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 |
| Identified Mutation |
826C>A |
| Remarks |
Symptom onset at age range 11-15 years; cardiac involvement; brain involvement; motor functions achieved and currently maintained: hold head up without assistance, sit without assistance, walk indoors without assistance; motor function achieved but not currently maintained: turn in bed without assistance, stand without assistance, walk outdoors without assistance, climb stairs with a handrail, and run with feet leaving the ground; Fukutin related protein gene (FKRP) sequence analysis result: homozygous for c.826C>A (leucine to isoleucine) DNA variation in exon 4; subject is also homozygous for one known polymorphism: c.135C>T (alanine to alanine) in exon 4 resulting in a silent mutation; MRI or CT scan findings: cerebellar tonsils ( 6 mm below foramen magnum); borderline Chiari 1 malformation; respiratory support used greater than 12 hours a day; see GM23630 for lymphoblast. |
| Cumulative PDL at Freeze |
4.23 |
| Passage Frozen |
2 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
|