Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE.

摘要: DNA methyltransferase 1 (EC 2.1.1.37), encoded by DNMT1 gene, is one of key enzymes in maintaining methylation patterns the human genome. It plays a crucial role embryonic development, imprinting and genome stability, cell differentiation. The dysfunction this group can lead to variety genetic disorders. Until now, mutations have been found be associated with two distinct phenotypes. Mutations exon 20 gene leads hereditary sensory autonomic neuropathy type IE, 21 cause autosomal dominant cerebellar ataxia, deafness narcolepsy. Here we report novel mutation sporadic case Chinese patient multiple motor neuropathy, hearing loss psychiatric manifestations. Furthermore, elucidated its pathogenic effect through molecular genetics studies revealed that defective function responsible for phenotypes individual. Our findings expand spectrum DNMT1-related disorders provide good example precision medicine combination exome sequencing clinical testing.