Studies using Fanconi anaemia (FA) mutant mouse models suggested that the combination of a defective FA pathway and aldehyde dehydrogenase-2 (ALDH2) 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 ALDH2 genotypes of 35 Japanese FA patients and their mothers. We found that a normal maternal ALDH2 allele was not essential for fetal development of ALDH2-deficient patients, and none of the post-natal clinical parameters were clearly affected by the maternal ALDH2 genotype in these patients.

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http://dx.doi.org/10.1111/bjh.14243DOI Listing

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Article Synopsis
  • The study investigates how genetic variations in the ADH1B and ALDH2 genes affect developmental outcomes in children based on maternal alcohol consumption during pregnancy in a Japanese population.
  • Analyzing data from 1727 mother-child pairs, it finds that children of mothers who drank alcohol during pregnancy are at a significantly higher risk for communication delays.
  • Specifically, genetic differences in the ALDH2 gene increase the risk of developmental delays, highlighting the importance of both genetic and environmental factors in child development.
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