A family with permanent neonatal diabetes due to a novel mutation in INS gene. Issue 2 (May 2015)

• Record Type: Journal Article
• Authors: Dimova, Rumyana; Tankova, Tsvetalina; Guergueltcheva, Velina; Tournev, Ivailo; Konstantinova, Maya
• Is Part Of: Diabetes research and clinical practice. Volume 108:Issue 2(2015)
• Page Start: e28
• Page End: e30
• Publication Date: 2015-05
• Subjects: Heterozyguos INS gene mutation -- Permanent neonatal diabetes; Diabetes -- Periodicals; Diabetes Mellitus -- Periodicals; 616.462
• DOI: 10.1016/j.diabres.2015.02.021
• Languages: English
• ISSNs: 0168-8227

Abstract

Highlights: A family with permanent neonatal diabetes due to novel INS gene mutation, p.A24V. All carriers are presented with rapid progression of long-term complications. Accompanying skeletal and eye movement abnormalities and brain lesions. The syndromic features point towards some additional unknown genetic defect(s). Abstract: In this report we present a family with permanent neonatal diabetes, heterozygous for a novel INS gene missense mutation, p.A24V, manifested with marked hyperglycemia and ketoacidosis, unstable glycemic control, requiring insulin therapy, rapid progression of long-term complications and accompanying physical pathological signs and brain lesions.