Abstract

Variants in MECP2 are associated with X-linked Rett syndrome, a neurological developmental disorder that almost exclusively affects females. It is characterized by regression of acquired skills, movement loss, loss of speech, stereotypical movements, intellectual disability, microcephaly, seizures, and other features. Our rare variant is not listed in the genom database and has not been detected in other cohorts before. The pathogenicity of the variant is considered possible by in silico programs. Two other missense variants rated as likely pathogenic and pathogenic at the same amino acid position have been reported in relation to Rett syndrome. In summary, we currently classify this variant as pathogenic according to the guidelines in a 6 years-old female with epilepsy, developmental delay and spastic dystonic movement disorder. The duplication identified in Chr 10:46,959,968-48,277,445 (approximately 1.3 Mb, appearing as partial duplications) was confirmed through NGS-based CNV analysis. This duplication is located in a polymorphic region and does not involve clearly disease-associated genes [1-3].

Keywords:Variant-child-Rett syndrome-MECP2