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- Title
Diagnosis of Fanconi Anemia: Mutation Analysis by Next-Generation Sequencing.
- Authors
Ameziane, Najim; Sie, Daoud; Dentro, Stefan; Ariyurek, Yavuz; Kerkhoven, Lianne; Joenje, Hans; Dorsman, Josephine C.; Ylstra, Bauke; Gille, Johan J. P.; Sistermans, Erik A.; De Winter, Johan P.
- Abstract
Fanconi anemia (FA) is a rare genetic instability syndrome characterized by developmental defects, bonemarrow failure, and a high cancer risk. Fifteen genetic subtypes have been distinguished. The majority of patients (≈85%) belong to the subtypes A (≈60%), C (≈15%) or G (≈10%), while a minority (≈15%) is distributed over the remaining 12 subtypes. All subtypes seem to fit within the "classical" FA phenotype, except for D1 and N patients, who havemore severe clinical symptoms. Since FA patients need special clinical management, the diagnosis should be firmly established, to exclude conditions with overlapping phenotypes. A valid FA diagnosis requires the detection of pathogenic mutations in a FA gene and/or a positive result from a chromosomal breakage test. Identification of the pathogenic mutations is also important for adequate genetic counselling and to facilitate prenatal or preimplantation genetic diagnosis. Here we describe and validate a comprehensive protocol for the molecular diagnosis of FA, based on massively parallel sequencing. We used this approach to identify BRCA2, FANCD2, FANCI and FANCL mutations in novel unclassified FA patients.
- Subjects
FANCONI'S anemia; GENETIC mutation; NUCLEOTIDE sequence; GENETIC disorders; DEVELOPMENTAL disabilities; BONE marrow diseases; CANCER risk factors; DIAGNOSIS
- Publication
Anemia (20901267), 2012, p1
- ISSN
2090-1267
- Publication type
Article
- DOI
10.1155/2012/132856