AUTHOR CONTRIBUTIONS
M. Edizadeh performed WES data analysis, variant interpretation, bio-informatics measurements and wrote the manuscript. N. Chegeninezhad performed WES, Sanger sequencing and co-segregation analysis. S. Akbari made clinical diagnosis. R. Pakmanesh designed primers and extracted DNA from peripheral blood samples. M. Salehirad performed PCR and Sanger sequencing. S. Ahmadipour made patient work-up and management. K. Hayatigolkhatmi wrote and revised the manuscript. H. Khodadadi supervised the study, revised and finalized the manuscript, supported the study financially.