scholarly journals Hepatocyte nuclear factor-1β (MODY5) gene mutations in Scandinavian families with early-onset diabetes or kidney disease or both

Diabetologia ◽  
2000 ◽  
Vol 43 (1) ◽  
pp. 131-132 ◽  
Author(s):  
Not Available Not Available
Keyword(s):  
Kidney Disease ◽  
Early Onset ◽  
Gene Mutations ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor ◽  
Onset Diabetes

Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4

Diabetes ◽  
1997 ◽  
Vol 46 (3) ◽  
pp. 528-535 ◽  
Author(s):  
P. J. Kaisaki ◽  
S. Menzel ◽  
T. Lindner ◽  
N. Oda ◽  
I. Rjasanowski ◽  
...  
Keyword(s):  
Early Onset ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor ◽  
Exon 4

scholarly journals A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young

Diabetologia ◽  
1997 ◽  
Vol 40 (7) ◽  
pp. 859-862 ◽  
Author(s):  
M. P. Bulman ◽  
M. J. Dronsfield ◽  
T. Frayling ◽  
M. Appleton ◽  
S. C. Bain ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Nuclear Factor ◽  
Maturity Onset Diabetes ◽  
Hepatocyte Nuclear Factor ◽  
Onset Diabetes ◽  
Hepatocyte Nuclear Factor 4 ◽  
Alpha Gene

scholarly journals A Novel -192c/g Mutation in the Proximal P2 Promoter of the Hepatocyte Nuclear Factor-4  Gene (HNF4A) Associates With Late-Onset Diabetes

Diabetes ◽  
2006 ◽  
Vol 55 (6) ◽  
pp. 1869-1873 ◽  
Author(s):  
J. Ek ◽  
S. P. Hansen ◽  
M. Lajer ◽  
C. Nicot ◽  
T. W. Boesgaard ◽  
...  
Keyword(s):  
Late Onset ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor ◽  
Onset Diabetes ◽  
P2 Promoter ◽  
Hepatocyte Nuclear Factor 4

Mutations in hepatocyte nuclear factor 1beta are not a common cause of maturity-onset diabetes of the young in the U.K

Diabetes ◽  
1998 ◽  
Vol 47 (7) ◽  
pp. 1152-1154 ◽  
Author(s):  
F. Beards ◽  
T. Frayling ◽  
M. Bulman ◽  
Y. Horikawa ◽  
L. Allen ◽  
...  
Keyword(s):  
Nuclear Factor ◽  
Maturity Onset Diabetes ◽  
Hepatocyte Nuclear Factor ◽  
Common Cause ◽  
Onset Diabetes

scholarly journals Maturity Onset Diabetes of the Young due to Glucokinase, HNF1-A, HNF1-B, and HNF4-A Mutations in a Cohort of Turkish Children Diagnosed as Type 1 Diabetes Mellitus

2018 ◽  
Vol 90 (4) ◽  
pp. 257-265 ◽  
Author(s):  
Elif Ozsu ◽  
Filiz Mine Cizmecioglu ◽  
Gul Yesiltepe Mutlu ◽  
Aysegul Bute Yuksel ◽  
Mursel Calıskan ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Rare Condition ◽  
High Sensitivity ◽  
Genetic Mutation ◽  
Nuclear Factor ◽  
Maturity Onset Diabetes ◽  
Hepatocyte Nuclear Factor ◽  
Turkish Children ◽  
Onset Diabetes

Background/Aims: Maturity onset diabetes of the young (MODY) is a rare condition often misdiagnosed as type 1 diabetes (T1D). The purposes of this study were: to identify any patients followed in a large Turkish cohort as T1D, with an atypical natural history, who may in fact have MODY, and to define the criteria which would indicate patients with likely MODY as early as possible after presentation to allow prompt genetic testing. Methods: Urinary C-peptide/creatinine ratio (UCPCR) was studied in 152 patients having a diagnosis of T1D for at least 3 years. Those with a UCPCR ≥0.2 nmol/mmol were selected for genetic analysis of the Glucokinase (GCK), Hepatocyte nuclear factor 1a (HNF1A), Hepatocyte nuclear factor 4a (HNF4A), and Hepatocyte nuclear factor 1b (HNF1B) genes. This UCPCR cut-off was used because of the reported high sensitivity and specificity. Cases were also evaluated using a MODY probability calculator. Results: Twenty-three patients from 152 participants (15.1%) had a UCPCR indicating persistent insulin reserve. The mean age ± SD of the patients was 13.6 ± 3.6 years (range 8.30–21.6). Of these 23, two (8.7%) were found to have a mutation, one with HNF4A and one with HNF1B mutation. No mutations were detected in the GCK or HNF1A genes. Conclusion: In Turkish children with a diagnosis of T1D but who have persistent insulin reserve 3 years after diagnosis, up to 9% may have a genetic mutation indicating a diagnosis of MODY.

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