Description:
PEARSON MARROW-PANCREAS 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 Uncertain Biochemical Etiology |
| 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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Hispanic/Latino
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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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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 Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Clinically affected; in infancy presented with macrocytic anemia and neutropenia and became transfusion-dependent for 8 months; short stature; recurrent bacterial and fungal infections; flaky skin; transient alopecia; chronic episodic vomiting; exercise intolerance; staggering gait; language regression; encephalopathy with ataxia and dysphagia; brainstem auditory evoked response was abnormal, suggesting retrocochlear deficit; CT scan revealed bilateral basal ganglia calcifications and extensive white matter changes; ragged red fibers were present on muscle biopsy; a heteroplasmic 4.4 kb deletion (m10560del4400) was observed in muscle, blood, buccal cells, and hair follicles and the proportion of mutant mitochondria was 55%, 21%, 57%, and 38%, respectively. |
| Lacbawan F, Tifft CJ, Luban NL, Schmandt SM, Guerrera M, Weinstein S, Pennybacker M, Wong LJ, Clinical heterogeneity in mitochondrial DNA deletion disorders: a diagnostic challenge of Pearson syndrome. Am J Med Genet95(3):266-268 2000 |
| PubMed ID: 11102933 |
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