title: A case report of Fanconi anemia diagnosed by genetic testing followed by prenatal diagnosis.
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.
authors.affiliation: Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.
authors.forename: Hwa Jeen
authors.initials: HJ
authors.lastname: Lee
authors.forename: Seungman
authors.initials: S
authors.lastname: Park
authors.forename: Hyoung Jin
authors.initials: HJ
authors.lastname: Kang
authors.forename: Jong Kwan
authors.initials: JK
authors.lastname: Jun
authors.forename: Jung Ae
authors.initials: JA
authors.lastname: Lee
authors.forename: Dong Soon
authors.initials: DS
authors.lastname: Lee
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park
authors.forename: Moon-Woo
authors.initials: MW
authors.lastname: Seong
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D005091:Exons; D005199:Fanconi Anemia / Q000175:diagnosis* / Q000235:genetics; D052217:Fanconi Anemia Complementation Group A Protein / Q000235:genetics; D052218:Fanconi Anemia Complementation Group C Protein / Q000235:genetics; D052241:Fanconi Anemia Complementation Group G Protein / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D022821:RNA Splice Sites; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: D052217:Fanconi Anemia Complementation Group A Protein; D052218:Fanconi Anemia Complementation Group C Protein; D052241:Fanconi Anemia Complementation Group G Protein; D022821:RNA Splice Sites