NA12260
DNA from Fibroblast
Description:
PROTEUS SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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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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Family Member
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1
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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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Clinically affected; purple discoloration developed over the right leg at age 2 years; middle and index fingers on left hand were enlarged; during the second year of life toes also enlarged; plantar surfaces of feet exhibited soft-tissue overgrowth; by age 3 the vascular changes on right leg began to fade; linear pigmented plaques were noted over the axilla and extensor surface of the right arm extending to the hand; x-rays of hands showed multiple exostoses and increased bone length and width; digital shortening, phalangeal epiphysiodesis, and debulking procedures were performed on the left middle finger; because of progressive enlargement, amputation of the left middle finger was necessary at age 5; cerebriform lesions of feet; biopsy of plantar masses showed findings consistent with connective tissue nevi; multiple connective tissue hamartomata; normal cognitive development; decrease in subcutaneous tissue resulted in venous prominence and a mature facial appearance; pulmonary insufficiency with sequela of cardiac insufficiency; heart-lung transplant; normal fraternal twin brother is GM12202; parents are GM12200 and GM12201; a lymphoblast culture from this same donor is GM12203 |
| Samlaska CP, Levin SW, James WD, Benson PM, Walker JC, Perlik PC, Proteus syndrome. Arch Dermatol125:1109-14 1989 |
| PubMed ID: 2667470 |
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