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Page 102 Khajuria et al. J Transl Genet Genom 2020;4:91-103 I http://dx.doi.org/10.20517/jtgg.2020.06

indicates that MECP2 variations can cause other neurodevelopmental phenotypes such as neonatal
encephalopathy and atypical RTT phenotype in both males and females. This study lacks this information
as only classical cases were included. A larger study is required to provide this information.

DECLARATIONS
Acknowledgments
We gratefully thank the patients and the families for their support and participation in this study. We thank
Dr. Angus Clarke, Cardiff University for providing positive controls for common mutations. We thank Dr. R.
Bandts (Maastricht University Medical Center) for providing technical support related to MLPA analysis.
We thank Dr. Sumita Danda (Christian Medical College and Hospital, Vellore) and Dr. Veena Kalra
(Indraprastha Apollo hospitals, New Delhi) for referring their patients to our institute.

Authors’ contributions
Literature review, patient enrollment, experiment validation, planning and execution, data analysis and
interpretation, bioinformatics analysis, wrote, prepared and reviewed manuscript: Khajuria R
Clinical evaluation, patient enrollment, counseling of families helped in planning the study, preparation
and critical evaluation of the manuscript, reviewed the manuscript: Gupta N
Provided support with MLPA data interpretation and bioinformatics analysis using Alamut software,
reviewed the manuscript: van Roozendaal KEP, Smeets EEJ, Curfs LMG
Helped in developmental assessment, behavioural evaluation and intervention for the patients, reviewed
the manuscript: Sapra S
Helped in patient enrollent and counseling, reviewed the manuscript: Ghosh M
Helped in neurological evaluation and management of neurological co-morbidities and manuscript review:
Gulati S
Conceptualized the study, helped in preparation of study protocol, helped in clinical evaluation, enrollment
and counseling of patients, helped in preparation and critical evaluation of the study, reviewed of the
manuscript, will act as the guaranteer for this study: Kabra M

Availability of data and materials
Data source is from patients enrolled for the study. For data details corresponding author may be contacted.

Financial support and sponsorship
This study was partially funded as research fellowship from Indian Council of Medical Research, New
Delhi (Grant Number: 45/8/2006/Hum/BMS).

Conflicts of interest
All authors declared that there are no conflicts of interest

Ethical approval and consent to participate
Ethical approval for the present study was taken from the Ethics Committee of the Institute. Proper
information about the study was given to all families and written informed consent was obtained from the
parent/guardian.

Consent for publication
Not applicable.

Copyright
© The Author(s) 2020.

REFERENCES
1. Amir RE, Van den veyver IB, Wan M, Tran CQ, Francke U, et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding
methyl-CpG –binding protein 2. Nat Genet 1999;23:185-8.