Page 324 - Haematologica April 2020

Bone Marrow Failure
Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients
Minako Mori,1,2 Asuka Hira,1 Kenichi Yoshida,3 Hideki Muramatsu,4 Yusuke Okuno,4 Yuichi Shiraishi,5 Michiko Anmae,6 Jun Yasuda,7Shu Tadaka,7 Kengo Kinoshita,7,8,9 Tomoo Osumi,10 Yasushi Noguchi,11 Souichi Adachi,12 Ryoji Kobayashi,13 Hiroshi Kawabata,14 Kohsuke Imai,15 Tomohiro Morio,16 Kazuo Tamura,6 Akifumi Takaori-Kondo,2 Masayuki Yamamoto,7,17 Satoru Miyano,5 Seiji Kojima,4 Etsuro Ito,18 Seishi Ogawa,3,19 Keitaro Matsuo,20 Hiromasa Yabe,21 Miharu Yabe21 and Minoru Takata1
1Laboratory of DNA Damage Signaling, Department of Late Effects Studies, Radiation Biology Center, Graduate School of Biostudies, Kyoto University, Kyoto, Japan; 2Department of Hematology and Oncology, Graduate School of Medicine, Kyoto University, Kyoto, Japan; 3Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan; 4Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan; 5Laboratory of DNA Information Analysis, Human Genome Center, The Institute of Medical Science, University of Tokyo, Tokyo Japan; 6Medical Genetics Laboratory, Graduate School of Science and Engineering, Kindai University, Osaka, Japan; 7Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan; 8Department of Applied Information Sciences, Graduate School of Information Sciences, Tohoku University, Sendai, Japan; 9Institute of Development, Aging, and Cancer, Tohoku University, Sendai, Japan; 10Children’s Cancer Center, National Center for Child Health and Development, Tokyo, Japan; 11Department of Pediatrics, Japanese Red Cross Narita Hospital, Chiba, Japan; 12Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan; 13Department of Pediatrics and Adolescence, Sapporo Hokuyu Hospital, Sapporo, Japan; 14Department of Hematology and Immunology, Kanazawa Medical University, Uchinada-machi, Japan; 15Department of Community Pediatrics, Perinatal and Maternal Medicine, Tokyo Medical and Dental University, Tokyo, Japan; 16Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan; 17Department of Medical Biochemistry, Graduate School of Medicine, Tohoku University, Sendai, Japan; 18Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan; 19Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institute, Stockholm, Sweden; 20Division of Molecular and Clinical Epidemiology, Aichi Cancer Center Research Institute, Nagoya, Japan and 21Department of Innovative Medical Science, Tokai University School of Medicine, Isehara, Kanagawa, Japan
doi:10.3324/haematol.2019.245720
©2020 Ferrata Storti Foundation
An incorrected version of table 2 appared On October 2019 Issue, page 1967. The corrected version of table 2 is published on the next page.
Table 2. Clinical phenotype of 10 Japanese Fanconi anemia patients with VACTERL-H association.
Individual Affected gene
Mutation patterns
c.2546delC: p.S849FfsX40
ALDH2*** genotype
VACTERL-H features
C: PDA
R: Left renal agenesis L: Bilateral absent thumbs/ Bilateral radial hypoplasia
V: scoliosis
C: ASD/Persistent left superior vena E: Esophageal atresia
E: Esophageal atresia
R: Right pelvic kidney
L: Bilateral thumb hypoplasia
FA-features
Short stature
Skin pigmentation
Deafness
Right inguinal hernia Bicornuate uterus Short stature (-1.8SD)
Jejunal atresia Strabismus Short stature (-4SD)
Family Birth DEB history weight SD induced
of FA*
+
−
−
score chromosome breakage
(breaks /cell)
Case 18-1
Case 30
Case 37
FANCA
FANCA
FANCA
c.4042_4043insC: p.I1348TfsX77 c.2546delC: p.S849FfsX40
c.2546delC:
p.S849FfsX40 c.2546delC: p.S849FfsX40
c.3295C>T: p.Q1099X
-1.9 0.44 AA
-2.1 2.06 GG
-2.3 0.12 GG
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