The phenotype and clinical course of Japanese Fanconi Anaemia infants is influenced by patient, but not maternal ALDH2 genotype

Br J Haematol. 2016 Nov;175(3):457-461. doi: 10.1111/bjh.14243. Epub 2016 Jul 5.

Abstract

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.

Keywords: ALDH2; Fanconi anaemia; bone marrow failure; haematopoietic stem cell transplantation.

MeSH terms

  • Aldehyde Dehydrogenase, Mitochondrial / genetics*
  • Alleles
  • Asian People / genetics*
  • Chromosomal Instability
  • DNA Damage
  • Fanconi Anemia / diagnosis*
  • Fanconi Anemia / genetics*
  • Female
  • Gene Frequency
  • Genotype*
  • Humans
  • Infant
  • Infant, Newborn
  • Japan
  • Male
  • Mutation
  • Phenotype*

Substances

  • Aldehyde Dehydrogenase, Mitochondrial