Noonan syndrome (ns) (omim 163950) considered as a relatively common (1/1000-2500), developmental, multi-organ and complex disorder in all populations, which shows substantial differential expression intra/inter familial along the genotyping diversities in patients. ns inherits in autosomal dominant mode, so the accurate diagnosis would be necessary for prevention and management issues. the aim of gathering and managing of this national databank was to improve knowledge and awareness about the causes, outcomes, and treatment approaches related to ns for researchers, physicians, and the patients themselves.
Methods
This project initially started in mashhad, iran. 50 individuals with ns condition from all parts of the country have been evaluated. clinical manifestations investigated and then molecular analysis performed in iran (pcr-sanger sequencing) and italy (next generation sequencing panel for ns). the results registered in the databank electronic files alongside the demographic information of patients.
Results
All the obtained data, including known and novel mutations in ns related genes, genotype-phenotype correlations in patients, which contained some new patterns for phenotypic data in iranian ethnic group, have been placed in databank and became processed for future use. also, the result of this investigation has been managed and published in peer-reviewed international journals so far.
Conclusion
This is the first iranian, largest patient-reported research databank for ns, which was developed and managed by genetic and pediatrics investigators. information collected during this study may be used to help provide opportunities for patients and researchers, who want to know and work further on iranian ns patients in the future.
