Two males with sick sinus syndrome in a family with 0.6  kb deletions involving major domains in MECP2.

In this study, using Nord's method of next-generation sequencing in three siblings, we identified a 0.6 kb deletion involving the transcriptional repression domain (TRD). 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. Therefore, this mutation is pathological for both males and females, resulting in sick sinus syndrome and severe tracheomalacia with strong reproducibility in males. 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.
PMID: 31536832 [PubMed - as supplied by publisher]

Source: European Journal of Medical Genetics - September 15, 2019 Category: Genetics & Stem Cells Authors: Inui T, Iwama K, Miyabayashi T, Sato R, Okubo Y, Endo W, Togashi N, Kakisaka Y, Kikuchi A, Mizuguchi T, Kure S, Matsumoto N, Haginoya K Tags: Eur J Med Genet Source Type: research