[Molecular diagnosis and therapeutic measures in patients with dyskeratosis congenita].
Dyskeratosis congenita is a rare genetically heterogeneous disorder characterized by bone marrow failure and premature ageing. Current knowledge on clinical manifestations, molecular pathomechanisms, diagnostic criteria and therapeutic possibilities of patients with dyskeratosis congenita are described. Mutation analysis of the gene encoding for dyskerin revealed the c.IVS2-5C>G splice site mutation. The importance of early diagnosis in order to prevent severe invasive infections and non-infectious complications is emphasized. Family screening is important to identify carriers as prenatal genetic diagnosis conveys great benefits for family planning.
Reiger
Zsolt
Z
Debreceni Egyetem, Orvos- és Egészségtudományi Centrum Infektológiai és Gyermekimmunológiai Tanszék Debrecen Nagyerdei krt. 98. Pf. 73 4012.
Varga
Gergely
G
Tóth
Beáta
B
Maródi
László
L
Erdos
Melinda
M
D000328:Adult; D016026:Bone Marrow Transplantation / Q000009:adverse effects; D018797:Cell Cycle Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D019871:Dyskeratosis Congenita / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology / Q000628:therapy*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D000089804:Shelterin Complex; D019098:Telomerase / Q000378:metabolism; D016615:Telomere / Q000378:metabolism; D034501:Telomere-Binding Proteins / Q000235:genetics
D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D009687:Nuclear Proteins; D000089804:Shelterin Complex; D034501:Telomere-Binding Proteins; D019098:Telomerase