Characterization of Pathogenic Variants and Clinical Phenotypes in 117 Japanese Fanconi Anemia Patients

Conclusion: This is the largest series of subtyped Japanese FA patients to date and the results would be useful for future clinical management. To provide molecular diagnosis for FA in Japan, we suggest to start with PCR-direct sequencing of the three common mutations (FANCA c.2546delC, FANCG c.307+1G>C and FANCG c.1066C>T) along with MLPA assay for FANCA. These analyses would enable the identification of about 50% of the mutant alleles. For the rest of the cases, WES or targeted-seq analysis should be useful, however, large deletions and aberrant splicing need to be kept in mind.DisclosuresTakaori-Kondo: Pfizer: Honoraria; Novartis: Honoraria; Celgene: Honoraria, Research Funding; Bristol-Myers Squibb: Honoraria; Janssen Pharmaceuticals: Honoraria.

Source: Blood - November 21, 2018 Category: Hematology Authors: Mori, M., Hira, A., Yoshida, K., Muramatsu, H., Okuno, Y., Anmae, M., Tamura, K., Yasuda, J., Osumi, T., Noguchi, Y., Adachi, S., Kawabata, H., Takaori-Kondo, A., Kojima, S., Ogawa, S., Yabe, H., Yabe, M., Takata, M. Tags: 508. Bone Marrow Failure: Poster III Source Type: research