A Case Report of Fanconi Anemia Diagnosed by Genetic Testing Followed by Prenatal Diagnosis.
10.3343/alm.2012.32.5.380
- Author:
Hwa Jeen LEE
1
;
Seungman PARK
;
Hyoung Jin KANG
;
Jong Kwan JUN
;
Jung Ae LEE
;
Dong Soon LEE
;
Sung Sup PARK
;
Moon Woo SEONG
Author Information
1. Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea. MWSeong@snu.ac.kr
- Publication Type:Case Reports
- Keywords:
Fanconi anemia;
FANCA;
Molecular diagnosis;
Prenatal diagnosis
- MeSH:
Base Sequence;
Child, Preschool;
Exons;
Fanconi Anemia/*diagnosis/genetics;
Fanconi Anemia Complementation Group A Protein/genetics;
Fanconi Anemia Complementation Group C Protein/genetics;
Fanconi Anemia Complementation Group G Protein/genetics;
Female;
Frameshift Mutation;
Genetic Testing;
Heterozygote;
Humans;
Karyotyping;
Male;
Pregnancy;
Prenatal Diagnosis;
RNA Splice Sites;
Reverse Transcriptase Polymerase Chain Reaction;
Sequence Analysis, DNA
- From:Annals of Laboratory Medicine
2012;32(5):380-384
- CountryRepublic of Korea
- Language:English
-
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.
