GM23614
LCL from B-Lymphocyte
Description:
DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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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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LCL from B-Lymphocyte
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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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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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 |
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| Remarks |
Clinically affected; several atraumatic fractures of right and left tibia and fibula at ages 14 and 15 years; developed proximal muscle weakness at age 29; cannot walk uphill; difficulty combing hair, lifting food to mouth, and getting out of low chairs; needs handrail to ascend stairs; fine hand movements are difficult; myopathic waddle, complete foot drop and exertional dyspnea; soft thin skin; three inguinal hernias; hair turned gray in his early 20s; weakness and wasting of paraspinal muscles, quadriceps, tibialis anterior, and gastrocnemius muscles; wasted triceps, biceps muscles, and thenar eminences; easy bruising-similar to von Willebrand; alkaline phosphatase level 62 U/L (30-130 U/L); creatine phosphokinase 171 U/L (20-220 U/L);echocardiogram reveals mild pulmonary stenosis; normal pulmonary function test; normal collagen study skin biopsy; left deltoid muscle biopsy showed no necrotic or regenerating fibers, no inflammatory infiltrates or structural abnormalities, results of special IHC studies were normal; EMG showed two different populations of motor units, some appearing myopathic and some normal, no evidence of denervation; muscle fiber recruitment increased except in paraspinal muscles where very little muscle remains; biceps were myopathic with short duration and small potentials; first dorsal interosseus muscle was short duration; vastus medialis and tibialis posterior were wasted but showed only mild change; normal immunological studies; skeletal survey shows patchy sclerotic changes in ilia and femora; fractures of femoral shafts appearing to be fatigue fractures; increase in cortical bone thickness, pronounced primary bone trabeculae, and over-tubulation not typical of Paget disease, osteogeneis imperfecta tarda, osteopetrosis or fibrous dysplasia; osteomalacia like changes present in addition to infarction within bone changes; spondylolisthesis at L3; histology of bone fragments from a fracture repair showed abnormal cortical bone with irregularly shaped spaces filled with fibrous tissue, some lined by osteoid and uneven distribution of osteocytes with the bone; no large Pagetic osteoclasts or cement (reversal) lines were present; two affected daughters- GM23610 and GM23612; two affected cousins- GM23620 and GM23622. |
| Mehta SG, Watts GD, McGillivray B, Mumm S, Hamilton SJ, Ramdeen S, Novack D, Briggs C, Whyte MP, Kimonis VE, Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy American journal of medical genetics Part A140:322-30 2006 |
| PubMed ID: 16419137 |
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| Watts GD, Mehta SG, Zhao C, Ramdeen S, Hamilton SJ, Novack DV, Mumm S, Whyte MP, Mc Gillivray B, Kimonis VE, Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome Human genetics118:508-14 2005 |
| PubMed ID: 16244874 |
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| HENRY EW, AUCKLAND NL, McINTOSH HW, STARR DE, Abnormality of the long bones and progressive muscular dystrophy in a family Canadian Medical Association journal78:331-6 1958 |
| PubMed ID: 13511301 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
- |
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