PMID- 21509085
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20110714
LR  - 20211020
IS  - 2075-0528 (Electronic)
IS  - 2075-051X (Print)
IS  - 2075-051X (Linking)
VI  - 10
IP  - 1
DP  - 2010 Apr
TI  - Clinically-Defined Maturity Onset Diabetes of the Young in Omanis: Absence of the 
      common Caucasian gene mutations.
PG  - 80-3
AB  - 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 4alpha (HNF4alpha), HNF1alpha 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 HNF1alpha and HNF4alpha 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.
FAU - Woodhouse, Nicholas Jy
AU  - Woodhouse NJ
AD  - Department of Medicine, College of Medicine & Health Sciences, Sultan Qaboos 
      University, Muscat, Oman.
FAU - Elshafie, Omayma T
AU  - Elshafie OT
FAU - Al-Mamari, Ali S
AU  - Al-Mamari AS
FAU - Mohammed, Nagi Hs
AU  - Mohammed NH
FAU - Al-Riyami, Fatma
AU  - Al-Riyami F
FAU - Raeburn, Sandy
AU  - Raeburn S
LA  - eng
PT  - Journal Article
DEP - 20100417
PL  - Oman
TA  - Sultan Qaboos Univ Med J
JT  - Sultan Qaboos University medical journal
JID - 101519915
PMC - PMC3074660
OTO - NOTNLM
OT  - Diabetes
OT  - Diabetes Mellitus
OT  - Diabetes mellitus
OT  - MODY
OT  - Oman
OT  - Type II
OT  - Young adults
OT  - familial
OT  - maturity onset
OT  - mutations
EDAT- 2011/04/22 06:00
MHDA- 2011/04/22 06:01
PMCR- 2010/04/01
CRDT- 2011/04/22 06:00
PHST- 2009/09/02 00:00 [received]
PHST- 2009/12/09 00:00 [revised]
PHST- 2009/01/06 00:00 [accepted]
PHST- 2011/04/22 06:00 [entrez]
PHST- 2011/04/22 06:00 [pubmed]
PHST- 2011/04/22 06:01 [medline]
PHST- 2010/04/01 00:00 [pmc-release]
AID - squmj-10-1-80 [pii]
PST - ppublish
SO  - Sultan Qaboos Univ Med J. 2010 Apr;10(1):80-3. Epub 2010 Apr 17.