Widening the phenotypic spectrum caused by pathogenic PDX1 variants in individuals with neonatal diabetes

Collaborators: Members of the PDX1-NDM consortium: Varthakavi P.K (TNM College and BYL Nair Charitable Hospital, Mumbai, India), Shaikh A (Diabetes Care Center, Ani Medical Gandhi Putla, Shahgunj, Aurangbad, India), Khadilkar A (Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, India), Khadilkar V (HCJMRI, Pune India), Oza C (HCJMRI, Pune India), Wolf J (Klinik fur Kinder- und Jugendmedizin, St Vincenz-Krankenhaus,Paderborn, Germany), Skrabic V (KBC Split, Pediatric Clinics, Split, Croatia), Unic I (KBC Split, Pediatric Clinics, Split, Croatia), Alves C (University Hospital Prof Edgard Santos, Salvador, Bahia, Brazil), Amoli M (Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran), Kulkarni A (Endocrine Wellness Clinic, Mumbai, India), Dhivyalakshmi J (Sri Ramachandra Medical College, Chennai, India), V Thiruvengadam (Kanchi Kamakoti CHILDS Trust Hospital, Chennai, India), Haliloglu B (Diyarbakir Child Health Hospital, Diyarbakir, Turkey), Imane Z (Children’s Hospital of Rabat, Rabat, Morocco), Ozdemir A (Erciyes University, Faculty od Medicine, Kayseri, Turkey), Yildiz M (Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey), Elbarbary N (Faculty of Medicine at Ain Shams University, Cairo, Egypt).

Contributors: NJ researched the follow-up clinical information, analyzed the data, and wrote the first draft of the manuscript. EDF, OAN, SEF, and JALH analyzed the genetic data. MNW performed the bioinformatic analysis on next-generation sequencing data. EG, KAP, ATH and the clinicians of the PDX1-NDM consortium analyzed the clinical data. EDF analyzed the genetic data, directed the research, contributed to the discussion, and wrote the manuscript. All authors critically revised the manuscript. The International NDM-PDX1 Consortium authors identified the patients and reviewed the manuscript. EDF is the guarantor of this work and had full access to all the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis.

Funding: This study was partly funded by a Wellcome Trust collaborative award (grant 224600/Z/21/Z). For the purpose of open access, the author has applied a CC BY public copyright licence to any Author accepted Manuscript version arising from this submission. EDF is a Diabetes UK RD Lawrence Fellow (19/005971). SEF has a Wellcome Trust Senior Research Fellowship (grant 223187/Z/21/Z). KAP is funded by the Wellcome Trust (219606/Z/19/Z). MNW is the recipient of an Exeter Diabetes Centre of Excellence Independent Fellowship funded by Research England’s Expanding Excellence in England (E3) fund. ATH is employed as a core member of staff within the National Institute for Health Research (NIHR) funded Exeter Clinical Research Facility and is an NIHR Emeritus Senior Investigator. The work is supported by the NIHR Exeter Biomedical Research Centre, Exeter, UK.

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