Amaratunga, Shenali A. http://orcid.org/0000-0002-3388-5824
Hussein Tayeb, Tara http://orcid.org/0000-0002-0687-7335
Muhamad Sediq, Rozhan N.
Hama Salih, Fareda K.
Dusatkova, Petra http://orcid.org/0000-0002-8647-9088
Wakeling, Matthew N. http://orcid.org/0000-0002-6542-9241
De Franco, Elisa http://orcid.org/0000-0002-1437-7891
Pruhova, Stepanka http://orcid.org/0000-0003-2076-115X
Lebl, Jan http://orcid.org/0000-0002-3365-5375
Funding for this research was provided by:
Grantová Agentura, Univerzita Karlova (340420)
Article History
Received: 20 June 2023
Accepted: 11 September 2023
First Online: 28 October 2023
Acknowledgements
: The authors would like to thank all participants and their families for their participation in the study. In addition, we thank our laboratory workers K. Veselá, L. Elblová and K. Kolářová (Department of Paediatrics, Motol University Hospital, Prague, Czech Republic) for their invaluable contributions to the genetic analysis including the WES methods. Some of the data were presented as an abstract at the European Society for Paediatric Endocrinology meeting in 2022.
: The data that support the findings of this study are not openly available because of institutional ethics restrictions but are available from the corresponding author on reasonable request.
: This study was supported by the Charles University Grant Agency (GA UK grant no. 340420) and by the project for the conceptual development of research organization (Motol University Hospital, Prague, Czech Republic, 00064203). EDF is a Diabetes UK RD Lawrence fellow (19/005971).
: The authors declare that there are no relationships or activities that might bias, or be perceived to bias, their work.
: All authors contributed to the study concept and design. SAA performed the data analysis, including NGS variant analysis, and wrote the manuscript. THT, RNMS and FKHS, who are local Kurdish physicians, complied comprehensive patient data from the study centre. In addition, THT referred participants for genetic testing and provided further clinical information. PD was responsible for NGS and provided insight into the variant analysis. EDF and MNW carried out further NGS variant analysis in participants who had negative genetic results and contributed to overall data interpretation. All authors contributed to the discussion, reviewed or edited the manuscript and approved the final version for publication. JL is responsible for the integrity of the work as a whole.