The anaemia so frequently found in cases of osteopetrosis in children has been generally regarded as being due to poor development of the bone marrow cavity by failure of absorption and organization of primitive chondro-osteoid tissue (Warkany, 1959; Clifton and Frank, 1959; Aegerter and Kirkpatrick, 1958). In many cases, however, the severity of the anaemia has not corresponded with the radiol...

Mutations in sorting nexin 10 (Snx10) have recently been found to account for roughly 4% of all human malignant osteopetrosis, some of them fatal. To study the disease pathogenesis, we investigated the expression of Snx10 and created mouse models in which Snx10 was knocked down globally or knocked out in osteoclasts. Endocytosis is severely defective in Snx10-deficient osteoclasts, as is extrac...

Loss of the lysosomal ClC-7/Ostm1 2Cl(-)/H(+) exchanger causes lysosomal storage disease and osteopetrosis in humans and additionally changes fur colour in mice. Its conversion into a Cl(-) conductance in Clcn7(unc/unc) mice entails similarly severe lysosomal storage, but less severe osteopetrosis and no change in fur colour. To elucidate the basis for these phenotypical differences, we generat...

Osteopetrosis is a fascinating, inherited polygenic disorder of bone metabolism characterized by a generalized increase in bone mass due to decreased bone resorption (1). While it is relatively rare, it provides important clues to the understanding of bone cell biology and the pathogenesis of metabolic bone diseases. Since osteopetrosis results from decreased osteoclastic bone resorption, its m...

BACKGROUND ClC-7 is a ubiquitous transporter which is broadly expressed in mammalian tissues. It is implied in the pathogenesis of lysosomal storage disease and osteopetrosis. Because of its endosomal/lysosomal localization it is still poorly characterized. METHODOLOGY/PRINCIPAL FINDINGS An electrophysiological characterization of rat ClC-7 using solid-supported membrane-based electrophysiolo...

OBJECTIVE Carbonic anhydrase (CA) II deficiency is a rare autosomal recessive disorder caused by mutation in the CA II gene that leads to osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification. Our aim is to present a patient with the classic triad of CA II deficiency syndrome to enhance the awareness about this rare syndrome. METHODS We describe the clinical and radiological...

Osteopetrosis is a rare disorder of osteoclastic bone resorption leading to hyperostosis. Albers-Schonberg disease, an autosomal dominant variant of osteopetrosis occurs in young adults and has a benign course. A 17 year old female presented with generalized weakness and pallor for last two months. She had insidious onset and gradually progressive loss of vision and hearing for last two years. ...