The D1424N MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome
نویسندگان
چکیده
1. Division of Medical Genetics, Faculty of Medicine, University of Geneva. CH-1211 Geneva, Switzerland. 2. Division of Hematology, Geneva University Hospital,CH-1206 Geneva, Switzerland. 3. Department of Pathology, Faculty of Medicine, University of Geneva. CH1211 Geneva, Switzerland. 4.Biozentrum der Universität Basel and Swiss Institute of Bioinformatics, CH-4056 Basel, Switzerland. 5. Graduate Program of Molecular and Cellular Biology, Faculty of Medicine, University of Geneva. CH-1211 Geneva, Switzerland.
منابع مشابه
HEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome
May-Hegglin anomaly (MHA), Fechtner syndrome (FTNS), Sebastian syndrome (SBS), and Epstein syndrome (EPS) are a group of rare, autosomal dominant disorders characterized by thrombocytopenia, giant platelets, and Döhle-like inclusion bodies, together with variable manifestations of Alport-like symptoms that include high-tone sensorineural deafness, cataracts, and nephritis. These disorders resul...
متن کاملAsp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.
May-Hegglin anomaly (MHA), Fechtner syndrome (FTNS), Sebastian syndrome (SBS), and Epstein syndrome (EPS) are a group of rare, autosomal dominant disorders characterized by thrombocytopenia, giant platelets, and Döhle-like inclusion bodies, together with variable manifestations of Alport-like symptoms that include high-tone sensorineural deafness, cataracts, and nephritis. These disorders resul...
متن کاملDouble nucleotidic mutation of the MYH9 gene in a young patient with end-stage renal disease.
Alport’s syndrome, a renal disorder with inherited transmission, is characterized by ultrastructural changes of glomerular basement membrane and basement membranes elsewhere. A progressive haematuric nephritis, sensorineural hearing loss and familial occurrence in successive generations are typical of this disorder. X-linked dominant inheritance is quite frequent (85–90% of the families) [1]. A...
متن کاملCOL4A5-associated X-linked Alport syndrome in a female patient with early inner ear deafness due to a mutation in MYH9.
Alport syndrome (ATS) is a type-IV collagen inherited disorder, caused by mutations in COL4A3 and COL4A4 (autosomal recessive) or COL4A5 (X-linked). Clinical symptoms include progressive renal disease, eye abnormalities and high-tone sensorineural deafness. A renal histology very similar to ATS is observed in a subset of patients affected by mutations in MYH9, encoding non-muscle-myosin Type II...
متن کاملMYH9-related platelet disorders.
Myosin heavy chain 9 (MYH9)-related platelet disorders belong to the group of inherited thrombocytopenias. The MYH9 gene encodes the nonmuscle myosin heavy chain IIA (NMMHC-IIA), a cytoskeletal contractile protein. Several mutations in the MYH9 gene lead to premature release of platelets from the bone marrow, macrothrombocytopenia, and cytoplasmic inclusion bodies within leukocytes. Four overla...
متن کامل