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Ann Lab Med. 2012 Sep;32(5):380-384. English. Case Reports. https://doi.org/10.3343/alm.2012.32.5.380
Lee HJ , Park S , Kang HJ , Jun JK , Lee JA , Lee DS , Park SS , Seong MW .
Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea. MWSeong@snu.ac.kr
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Department of Obstetrics and Gynecology, Seoul National University Hospital, Seoul, Korea.
Abstract

Fanconi anemia (FA) is a rare genetic disorder affecting multiple body systems. Genetic testing, including prenatal testing, is a prerequisite for the diagnosis of many clinical conditions. However, genetic testing is complicated for FA because there are often many genes that are associated with its development, and large deletions, duplications, or sequence variations are frequently found in some of these genes. This study describes successful genetic testing for molecular diagnosis, and subsequent prenatal diagnosis, of FA in a patient and his family in Korea. We analyzed all exons and flanking regions of the FANCA, FANCC, and FANCG genes for mutation identification and subsequent prenatal diagnosis. Multiplex ligation-dependent probe amplification analysis was performed to detect large deletions or duplications in the FANCA gene. Molecular analysis revealed two mutations in the FANCA gene: a frameshift mutation c.2546delC and a novel splice-site mutation c.3627-1G>A. The FANCA mutations were separately inherited from each parent, c.2546delC was derived from the father, whereas c.3627-1G>A originated from the mother. The amniotic fluid cells were c.3627-1G>A heterozygotes, suggesting that the fetus was unaffected. This is the first report of genetic testing that was successfully applied to molecular diagnosis of a patient and subsequent prenatal diagnosis of FA in a family in Korea.

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