Expanded genetic insight and clinical experience of DNMT1-complex disorder.
Hongyan BiKaori HojoMasashi WatanabeChristina YeeKiran P MaskiSadaf SabaJonathan Graff-RadfordMary M MachuldaErik K St LouisIlona Spitsyna HumesEoin P FlanaganStefan NicolauDavid T JonesMarc C PattersonSuresh KotagalYael RazZhiyv NiuJun LiChristopher J KleinPublished in: Neurology. Genetics (2020)
Broader application of WES further expands genotype-phenotype correlations of DNMT1-complex disorder. Two mutations are identified with early childhood onsets. The expanded new phenotypes include asymmetric brain hemiatrophy with parenchymal gadolinium enhancement, spinal cord atrophy, prolonged cataplectic spells, and hypogammaglobulinemia. Hearing loss treatment by cochlear implantation is helpful and should be considered.