Summary

Hum Genome Var. 2019 Oct 18;6:48. doi: 10.1038/s41439-019-0078-2. eCollection 2019.

Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome.

Abstract:

Rett syndrome (RTT) is an X-linked progressive and severe neurological disorder caused by mutations in the gene encoding methyl CpG binding protein 2 (MECP2). Among the 49 typical RTT patients examined, we identified 10 novel and eight known insertion/deletion variants, and 31 known pathogenic variants in MECP2. The pathogenic variants presented here should be a useful resource for examining the correlation between the genotypes and phenotypes of RTT.

日本語要旨:

PMID:  31645986

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