These authors equally contributed.
FANCA and FANCG are the major Fanconi anemia genes in the Korean population
Article first published online: 7 NOV 2012
© 2012 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 84, Issue 3, pages 271–275, September 2013
How to Cite
FANCA and FANCG are the major Fanconi anemia genes in the Korean population., , , , , , , , , .
The authors have no conflicts of interest.
- Issue published online: 12 AUG 2013
- Article first published online: 7 NOV 2012
- Accepted manuscript online: 15 OCT 2012 01:10PM EST
- Manuscript Accepted: 11 OCT 2012
- Manuscript Revised: 9 OCT 2012
- Manuscript Received: 12 AUG 2012
- Korea Health technology R&D Project
- Ministry of Health & Welfare, Republic of Korea. Grant Number: A120175
- Fanconi anemia;
- founding mutation;
- mutation analysis
Fanconi anemia (FA) is a rare disorder characterized by physical abnormalities, bone marrow failure (BMF), increased risk of malignancies, and cellular hypersensitivity to DNA cross-linking agents. This study evaluated the genetic alterations in three major Fanconi genes (FANCA, FANCC, and FANCG) in 30 FA patients using multiplex ligation-dependent probe amplification and direct sequencing. Thirteen BMF patients were genetically classified as FA-A (n = 6, 46%) and FA-G (n = 7, 54%). Four common founder mutations were identified and included two FANCA mutations (c.2546delC and c.3720_3724delAAACA) and two FANCG mutations (c.307+1G>C and c.1066C>T), which had previously been commonly observed in a Japanese FA population. We also detected four novel deleterious mutations: c.2778+1G>C and c.3627-1G>A of FANCA, and c.1589_1591delATA and c.1761-1G>A of FANCG. This study shows that mutations in FANCA and FANCG are common in Korean FA patients and the existence of four common founder mutations in an East Asian FA population. Mutation screening workflow that includes these common mutations may be useful in the creation of an international database, and to better understand the ethnic characteristics of FA.