Open AccessA Forkhead box G1 (FOXG1) gene mutation in an Indian patient with a congenital variant of Rett syndrome.
Author(s) -
Sai Chandar Dudipala,
Naveen Reddy Cheruku,
Krishna Chaithanya Battu
Publication year - 2020
Publication title -
pediatric review: international journal of pediatrics research
Language(s) - English
Resource type - Journals
eISSN - 2349-5499
pISSN - 2349-3267
DOI - 10.17511/ijpr.2020.i08.09
Subject(s) - rett syndrome , microcephaly , frameshift mutation , mutation , dyskinesia , genetics , global developmental delay , dystonia , pediatrics , medicine , biology , gene , neuroscience , disease , phenotype , parkinson's disease
A congenital variant of rett syndrome or Forkhead box G1 (FOXG1) syndrome is a rareneurodevelopmental disorder characterized by global developmental delay, microcephaly, autisticfeatures, early-onset dyskinesia, and seizures. Once it was described as one atypical variant of rettsyndrome but now considered as a separate entity. The current study found one girl carrying the denovo c.500-501incG frameshift mutation in the FOXG1 gene by genetic analysis during theevaluation for severe chronic encephalopathy. In literature, only one case was reported from Indiawith FOXG1 mutation. The FOXG1 mutation should be considered in children with a history of globaldevelopmental delay, dyskinesia, and microcephaly with characteristic brain neuroimaging findings.