title: Recent advances in inherited bone marrow failure syndrome research.
abstract: Inherited bone marrow failure syndromes (IBMFS) are a heterogeneous group of genetic disorders characterized by bone marrow failure, congenital anomalies, and an increased risk of malignancies. Diagnosis is often difficult due to the wide variety of clinical expressions. The representative diseases are Diamond Blackfan anemia (DBA), Fanconi anemia (FA), congenital sideroblastic anemia (CSA), congenital dyserhthropoietic anemia, Shwachman Diamond syndrome, and dyskeratosis congenita. Next-generation sequencing technologies have facilitated the discovery of germline mutations that cause IBMFS. Recently, Japanese groups have identified novel causative genes for DBA, FA and congenital thrombocytopenia by applying whole exome-sequencing. In this review, we will highlight recent studies on DBA, FA and CSA in Japan, which have employed next-generation sequencing technologies to elucidate the genetic etiology of IBMFS.
authors: Department of Pediatrics, Hirosaki University Graduate School of Medicine.
authors: Etsuro
authors: E
authors: Ito
authors: Tsutomu
authors: T
authors: Toki
authors: Kiminori
authors: K
authors: Terui
mesh_terms: D000741:Anemia, Aplastic / Q000235:genetics*; D000818:Animals; D001855:Bone Marrow Diseases / Q000235:genetics*; D000080983:Bone Marrow Failure Disorders; D004260:DNA Repair; D020022:Genetic Predisposition to Disease; D006457:Hemoglobinuria, Paroxysmal / Q000235:genetics*; D006801:Humans; D008667:Metalloproteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics; D012269:Ribosomal Proteins / Q000235:genetics
chemical_list: D008667:Metalloproteins; D009687:Nuclear Proteins; D016601:RNA-Binding Proteins; C083686:RPS27 protein, human; D012269:Ribosomal Proteins; C034661:ribosomal proteins L27