The first report of a successful birth by preimplantation genetic testing for leukodystrophy induced by IBA57 gene

Leukodystrophies are a group of heterogeneous disorders affecting the white matter, resulting from various genetic defects. Multiple recessive mutations in the IBA57 gene, which codes for a protein involved in the final stages of the mitochondrial Fe/S biogenesis pathway, have been linked to the development of leukodystrophy. In this study, we first report the identification of a compound heterozygous mutation in the IBA57 gene, with one mutation (c.286T > C) inherited from the father and another mutation (c.697C > T) inherited from the mother, who has previously given birth to two children with leukodystrophy. Through preimplantation genetic testing (PGT-M), one successful intrauterine pregnancy was achieved, resulting in the delivery of a healthy male infant at 38 + 3 weeks of gestation. This study confirms the significant role of IBA57 in leukoencephalopathy and provides valuable insights for molecular diagnosis and genetic counseling related to IBA57-related disorders.