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The phenotype and clinical course of Japanese Fanconi Anaemia infants is influenced by patient, but not maternal ALDH2 genotype
Author(s) -
Yabe Miharu,
Yabe Hiromasa,
Morimoto Tsuyoshi,
Fukumura Akiko,
Ohtsubo Keisuke,
Koike Takashi,
Yoshida Kenichi,
Ogawa Seishi,
Ito Etsuro,
Okuno Yusuke,
Muramatsu Hideki,
Kojima Seiji,
Matsuo Keitaro,
Hira Asuka,
Takata Minoru
Publication year - 2016
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.14243
Subject(s) - aldh2 , aldehyde dehydrogenase , genotype , fetus , bone marrow failure , fanconi anemia , medicine , allele , genotype phenotype distinction , phenotype , dna damage , embryo , bone marrow , physiology , biology , immunology , pregnancy , genetics , dna repair , haematopoiesis , dna , gene , stem cell
Summary Studies using Fanconi anaemia ( FA ) mutant mouse models suggested that the combination of a defective FA pathway and aldehyde dehydrogenase‐2 ( ALDH 2) dysfunction could provoke bone marrow failure, leukaemia and developmental defects, and that both maternal and fetal aldehyde detoxification are crucial to protect the developing embryo from DNA damage. We studied the ALDH 2 genotypes of 35 Japanese FA patients and their mothers. We found that a normal maternal ALDH 2 allele was not essential for fetal development of ALDH 2 ‐deficient patients, and none of the post‐natal clinical parameters were clearly affected by the maternal ALDH 2 genotype in these patients.