Ethical approval and consent to participate
The project was approved from the Board of advanced study and research (BASR) and ethical committee (No: IIU (BI&BT)/FBAS-2018-3591), of International Islamic University Islamabad, Pakistan according to the declaration of Helsinki principle. Written informed consents were obtained from the research participants. Children younger than 16 years of age, written consent to participate obtained from their parents.
Consent for Publication
Written informed consent for publication of this research work was obtained from the research participant and child’s < 16 years of age written informed consent was obtained from their parents for the publication of their clinical and genetic data.
Availability of Data
Variant has been submitted to the NCBI database ClinVar, available online by using following Accession number: SCV001423533. All data related to paper available on request from corresponding authors
Competing Interests
Authors declare they have no competing interests.
Funding
The study was supported by higher education commission (HEC) of Pakistan under student scholarship program (award No: 1-8/HEC/HRD/2018/8590, NRPU7028). Microarray/exome sequencing, Sanger sequencing was carried out at RILD Wellcome Wolfson Center, Royal Devon, University of Exeter.
Author Contributions
I.A performed all particle work; compile the manuscript. G.H performs the WES analysis and help in variants selection. M.I performs the bioinformatics analysis, multiple sequencing alignment. A.M designed the project and provided funds for lab work. All authors approved the manuscript.
Acknowledgments
We thank patients and their families for participation in this study. We also thank Professor Andrew H Crosby and Emma Baple, University of Exeter for their help, guidance and providing facilities for this project.
Author Information
Not applicable
Author Details
1Department of Biological Sciences, International Islamic University Islamabad, 44000, Pakistan.
2College of Medicine and Health, University of Exeter, Barrack Road, EX2 5DW, Exeter, Devon, UK.
3Department of Pharmacology, Rajarshi Shahu College of Pharmacy, Malvihir, Buldana, Maharashtra, India.