Maturity‐onset diabetes of the young (MODY) due to PDX1 mutation in a sib‐pair diabetes family from Qatar. Issue 12 (11th December 2021)

• Record Type: Journal Article
• Authors: Haris, Basma; Mohammed, Idris; Syed, Najeeb; Fakhro, Khalid; Hussain, Khalid
• Is Part Of: Clinical case reports. Volume 9:Issue 12(2021)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2021-12-11
• Subjects: MODY -- PDX1 -- pediatric diabetes mellitus; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.5141
• Languages: English
• ISSNs: 2050-0904

Abstract

Abstract: Maturity‐onset diabetes of young (MODY) is an autosomal dominant genetic disorder that causes insulin deficiency without autoimmunity. We present the first family with pancreatic duodenal homeobox 1 (PDX1) mutation causing diabetes from Qatar. Routine genetic screening of all antibody‐negative diabetic patients with diabetes should be offered to avoid misdiagnosis. Abstract : We report the first family with PDX1 mutation causing diabetes in children from Qatar and present a complex pedigree which is contributing to the disease condition. Efforts to implement precision medicine for all patients with antibody‐negative diabetes will bring better clinical outcomes.