Description:
OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Alternate IDs |
GM17322 [OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Ethnicity
|
ITALIAN
|
|
Family Member
|
3
|
|
Relation to Proband
|
mother
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| carbonate dehydratase (carbonic anhydrase II) |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 4.2.1.1; 50% activity. |
| |
| Remarks |
Three affected daughters and 1 unaffected daughter; asymptomatic; 50% of normal RBC carbonic anhydrase II activity; slow growing culture; see GM06072 Fibroblast |
| Sly WS, Whyte MP, Sundaram V, Tashian RE, Hewett-Emmett D, Guibaud P, Vainsel M, Baluarte HJ, Gruskin A, Al-Mosawi M, et al, Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. N Engl J Med313:139-45 1985 |
| PubMed ID: 3925334 |
| |
| Sly WS, Hewett-Emmett D, Whyte MP, Yu YS, Tashian RE, Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. Proc Natl Acad Sci U S A80:2752-6 1983 |
| PubMed ID: 6405388 |
| |
| Whyte MP, Murphy WA, Fallon MD, Sly WS, Teitelbaum SL, McAlister WH, Avioli LV, Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters. Am J Med69:64-74 1980 |
| PubMed ID: 7386510 |
| |
| Sly, Recessive osteopetrosis: New clinical phenotype. Am J Hum Genet24:34a (1972):64-74 1972 |
| PubMed ID: 7386510 |
|
|