Typical Rett syndrome in a young boy with hemizygous c.316C>T mutation in MECP2 gene
Murat Coskun, Seda Erbilgin, İbrahim Akalın, İlyas Kaya, Zeynep Nur Gülle, Afig Berdeli
Article No:
12
Article Type :
Case Report
Mutations in Methyl-CpG-binding protein 2 (MECP2) gene have been implicated in the etiology of Rett syndrome (RTT), a neurodevelopmental disorder that primarily affects girls. MECP2 mutations once thought to be lethal in males, now on hand with a broad spectrum of clinical manifestations. Here we report a 3-year-old boy who presented with developmental problems and regression and eventually diagnosed with RTT that genetic analysis revealed a hemizygous c.316C>T missense mutation in MECP2 gene suggesting somatic mosaicism with normal 46,XY karyotype. DNA analysis of the patient’s mother showed this either to be a de novo mutation or gonadal mosaicism. To the best of our knowledge, this is the first case report of RTT in a young boy with hemizygous c.316C>T mutation in MECP2 gene.
Keywords :
Rett syndrome, male, MECP2 mutation, c.316C>T, somatic mosaicism