Typical Rett Syndrome in a young boy with hemizygous c.316C>T mutation in MECP2 gene
- 1 January 2020
- journal article
- research article
- Published by Kare Publishing in Dusunen Adam the Journal of Psychiatry and Neurological Sciences
- Vol. 33 (1), 99-103
- https://doi.org/10.14744/dajpns.2019.00067
Abstract
Mutations in the 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 in males, once thought to be lethal, are now recognized with a broad spectrum of clinical manifestations. Here we report a 3-year-old boy who presented with developmental problems and regression and eventually was diagnosed with RTT that genetic analysis revealed to be a hemizygous c.316C>T missense mutation in the MECP2 gene suggesting somatic mosaicism with the normal 46,XY karyotype. DNA analysis of the patient’s mother showed this either to be a de novo mutation or a case of gonadal mosaicism. To the best of our knowledge, this is the first case report of RTT in a young boy with a hemizygous c.316C>T mutation in the MECP2 gene.Keywords
This publication has 9 references indexed in Scilit:
- Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a maleBrain & Development, 2011
- A MECP2 missense mutation within the MBD domain in a Brazilian male with autistic disorderBrain & Development, 2011
- Rett syndrome: Revised diagnostic criteria and nomenclatureAnnals of Neurology, 2010
- A MECP2 mutation in a highly conserved aminoacid causing mental retardation in a maleBrain & Development, 2009
- MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous motherBrain & Development, 2007
- del5p/dup5q in a ‘cri du chat’ patient without parental chromosomal rearrangementAmerican Journal of Medical Genetics Part A, 2006
- Clinical profile of a male with Rett syndromeBrain & Development, 2005
- Classic Rett syndrome in a boy with R133C mutation of MECP2Brain & Development, 2005
- Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boyEuropean Journal of Human Genetics, 2002