Clinically-defined maturity onset diabetes of the young in Omanis: Absence of the common caucasian gene mutations

Nicholas J.Y. Woodhouse*, Omayma T. Elshafie, Ali S. Al-Mamari, Nagi H.S. Mohammed, Fatma Al-Riyami, Sandy Raeburn

*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلةمراجعة النظراء

7 اقتباسات (Scopus)

ملخص

Objectives: We are seeing a progressive increase in the number of young patients with clinically defined maturity onset diabetes of the young (MODY) having a family history suggestive of a monogenic cause of their disease and no evidence of autoimmune type 1 diabetes mellitus (T1DM). The aim of this study was to determine whether or not mutations in the 3 commonest forms of MODY, hepatic nuclear factor 4α (HNF4α), HNF1α and glucokinase (GK), are a cause of diabetes in young Omanis. Methods: The study was performed at Sultan Qaboos University Hospital (SQUH), Oman. Twenty young diabetics with a family history suggestive of monogenic inheritance were identified in less than 18 months; the median age of onset of diabetes was 25 years and the median body mass index (BMI) 29 at presentation. Screening for the presence of autoimmune antibodies against pancreatic beta cells islet cell antibody (ICA) and glutamic acid decarboxylase (GAD) was negative. Fourteen of them consented to genetic screening and their blood was sent to Prof. A. Hattersley’s Unit at the Peninsular Medical School, Exeter, UK. There, their DNA was screened for known mutations by sequencing exon 1-10 of the GCK and exon 2-10 of the HNF1α and HNF4α genes, the three commonest forms of MODY in Europe. Results: Surprisingly, none of the patients had any of the tested MODY mutations. Conclusion: In this small sample of patients with clinically defined MODY, mutations of the three most commonly affected genes occurring in Caucasians were not observed. Either these patients have novel MODY mutations or have inherited a high proportion of the type 2 diabetes mellitus (T2DM) susceptibility genes compounded by excessive insulin resistance due to obesity.

اللغة الأصليةEnglish
الصفحات (من إلى)80-83
عدد الصفحات4
دوريةSultan Qaboos University Medical Journal
مستوى الصوت10
رقم الإصدار1
حالة النشرPublished - أبريل 2010

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