A case of congenital Rett variant in a Chinese patient caused by a mutation.

Rett syndrome (RTT) is a severe progressive neurodevelopmental disease characterized by psychomotor regression. The gene is one of the pathogenic genes associated with the congenital Rett variant, which is less studied. Only a few Chinese patients with mutation have been reported. In this study, we describe a Chinese female patient with congenital Rett variant who presented with psycho-motor retardation, developmental regression, microcephaly, seizure, stereotypic hand movement and hypotonia. Targeted high-throughput sequencing was conducted, and a heterozygous mutation [NM_005249.4: c.506dupG (P.G169Gfs* 286)] was identified. It was a frameshift mutation resulting in alteration of the reading frames downstream of the mutation. SIMILAR CASES PUBLISHED: 10. CONFLICT OF INTEREST: None.