Deletions involving major domains in MECP2 cause sick sinus syndrome
A new study published in the European Journal of Human Genetics identified a 0.6 kb deletion involving the transcriptional repression domain in three siblings. Two males and one female had intellectual disability and apnea, but none met the criteria of Rett syndrome. Both males had sick sinus syndrome and severe tracheomalacia that resulted in early death. The mother, with skewed X-inactivation, had no symptoms. Deletions involving major domains in MECP2 can result in a severe phenotype, and deletion of the TRD domain can cause severe autonomic nervous system dysregulation in males in these cases.
- Eur J Med Genet. 2020 Mar;63(3):103769