AnSNX10mutation causes malignant osteopetrosis of infancy
نویسندگان
چکیده
منابع مشابه
An SNX10 mutation causes malignant osteopetrosis of infancy.
BACKGROUND Osteopetrosis is a life-threatening, rare disorder typically resulting from osteoclast dysfunction and infrequently from failure to commitment to osteoclast lineage. Patients commonly present in infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, and bone marrow failure. In ∼70% of the patients there is a molecularly defined failure to maintain an acid p...
متن کاملA Novel Mutation in SNX10 Gene Causes Malignant Infantile Osteopetrosis
BACKGROUND Osteopetrosis is a group of genetically heterogonous diseases and the main feature of that is increased bone density due to osteoclast's abnormality. It has three clinical forms based on inheritance pattern, severity and age of onset: the dominant benign form (ADO), the intermediate form (IRO) and the recessive severe form (ARO). One of the recently discovered genes for ARO form is S...
متن کاملGenetic Diagnosis Using Whole Exome Analysis in Two Cases with Malignant Osteopetrosis of Infancy
Ad dress for Cor res pon den ce Korcan Demir MD, Dr. Behçet Uz Children’s Hospital, Clinic of Pediatric Endocrinology, İzmir, Turkey Phone: +90 232 412 60 77 E-mail: [email protected], [email protected] ©Jo ur nal of Cli ni cal Re se arch in Pe di at ric En doc ri no logy, Pub lis hed by Ga le nos Pub lis hing. Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malignant O...
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BACKGROUND Malignant infantile osteopetrosis (MIOP) presents early in life with extreme sclerosis of the skeleton and reduction of bone marrow spaces. Since there is a defect in the bone marrow, the disease can cause anemia, extramedullary hematopoiesis secondary to anemia leading to hepatosplenomegaly, cranial nerves compression and severe growth failure. This disorder is often lethal within t...
متن کاملCanonical Notch activation in osteocytes causes osteopetrosis.
Activation of Notch1 in cells of the osteoblastic lineage inhibits osteoblast differentiation/function and causes osteopenia, whereas its activation in osteocytes causes a distinct osteopetrotic phenotype. To explore mechanisms responsible, we established the contributions of canonical Notch signaling (Rbpjκ dependent) to osteocyte function. Transgenics expressing Cre recombinase under the cont...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2012
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmedgenet-2011-100520