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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… Click to show full 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.
Keywords:
variants mecp2;
rett syndrome;
insertion deletion;
deletion variants
Journal Title: Human Genome Variation
Year Published: 2019
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Journal Title: Human Genome Variation
Year Published: 2019
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!