Rett Syndrome in India: demographics, clinical features, and genetic profile of 6 Rett Syndrome cases as part of "Genetics in Autism" research study

Rett syndrome is a complex neurodevelopmental  disorder,  caused  by  mutations  in  MECP2  gene.  

At present, around 900 different variations, both  benign  and  pathogenic  of  the  gene  are  known.  

Different  mutations  can  lead  to  variable  levels  of  severity,  different  clinical  features  and  may  

be associated with variable demographic profile.  We present here a case study of 6 Rett Syndrome  

cases,  a  part  of  "Genetics  in  Autism"  research  study and their genotype-phenotype profile. The  

study  includes  two  novel  variants,  c.23_27del  in  exon1  and  c.538C>T  variant  (male  mosaic)  

known  in  females  but  not  in  males.  Although  it  is  a  small  sample  size,  the  study  highlights  

the  importance  of  genetic  tests  and  counselling  in  children  with  features  of  autism  spectrum  

disorder.