The G319S variants of the HNF1A gene in a family with diabetes mellitus

Maturity onset diabetes of the young defines a diabetes mellitus subtype, with no insulin resistance or autoimmune pancreatic β-cells dysfunction, that occurs by mutation in a single gene. A 13-year-old girl hospitalised due to hyperglycemia plus glycosuria without ketosis, and with normal glycated haemoglobin of 6.8%. She started a sugar-free fast-absorption diet and no insulin therapy was required. Fasting glucose was normal, but 2 hours after lunch she presented hyperglycemia as after 2 hours of an oral glucose tolerance test, with 217 mg/dL. Family history was positive for type 2 diabetes mellitus with an autosomal dominant pattern. She was discharged with fast-absorption sugar-free diet and low-dose of sulfonylurea. A genetic test was performed detecting a mutation in heterozygosity of HNF1A gene, compatible with the diagnosis of maturity onset diabetes of the young 3 (MODY3), not reported in the literature. Early recognition of signs and symptoms increase awareness of MODY. Genetic test allows confirmation and leads to optimised treatment.

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Monogenic diabetes mellitus in Norway

Norsk Epidemiologi ◽

10.5324/nje.v23i1.1603 ◽

2013 ◽

Vol 23 (1) ◽

Cited By ~ 1

Author(s):

Oddmund Søvika ◽

Henrik Underthun Irgens ◽

Janne Molnes ◽

Jørn V. Sagena ◽

Lise Bjørkhaug ◽

...

Keyword(s):

Diabetes Mellitus ◽

Genetic Testing ◽

Correct Diagnosis ◽

Molecular Genetic ◽

Neonatal Diabetes ◽

Monogenic Diabetes ◽

University Hospital ◽

Diagnosis And Prognosis ◽

Hnf1a Gene ◽

Choice Of Therapy

Here, we review data on monogenic diabetes mellitus in Norway based on the Norwegian MODY Registry at Haukeland University Hospital, Bergen. This registry comprises established or suspected cases of maturity-onset diabetes of the young (MODY) referred to our laboratory for genetic testing. We also present data on neonatal diabetes, another group of monogenic diabetes. To date, we have genetically diagnosed nearly 500 MODY cases in Norway. Mutations in the HNF1A gene (MODY3) were detected in about 50% of families with clinical MODY. GCK-MODY (MODY2) was the second most prevalent type, but may be underreported. We have also found mutations in the monogenic genes ABCC8, CEL, HNF1B, HNF4A, INS, KCNJ11 and NEUROD1. Based on genetic screening in the Norwegian MODY Registry and HUNT2, we estimate the number of MODY cases in Norway to be at least 2500-5000. Founder effects may determine the geographical distribution of MODY mutations in Norway. The molecular genetic testing of MODY and neonatal diabetes is mandatory for correct diagnosis and prognosis as well as choice of therapy

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HNF1A gene p.I27L is associated with co-existing preeclampsia in gestational diabetes mellitus

Gynecological Endocrinology ◽

10.1080/09513590.2019.1698023 ◽

2019 ◽

Vol 36 (6) ◽

pp. 530-534

Author(s):

Selvihan Beysel ◽

Ferda Alparslan Pinarli ◽

Nilnur Eyerci ◽

Muhammed Kizilgul ◽

Sema Hepsen ◽

...

Keyword(s):

Diabetes Mellitus ◽

Gestational Diabetes ◽

Gestational Diabetes Mellitus ◽

Hnf1a Gene

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Common variants of HNF1A gene are associated with diabetic retinopathy and poor glycemic control in normal-weight Japanese subjects with type 2 diabetes mellitus

Journal of Diabetes and its Complications ◽

10.1016/j.jdiacomp.2016.06.007 ◽

2017 ◽

Vol 31 (2) ◽

pp. 483-488 ◽

Cited By ~ 2

Author(s):

Kazunori Morita ◽

Junji Saruwatari ◽

Takahiro Tanaka ◽

Kentaro Oniki ◽

Ayami Kajiwara ◽

...

Keyword(s):

Diabetes Mellitus ◽

Type 2 Diabetes ◽

Type 2 Diabetes Mellitus ◽

Diabetic Retinopathy ◽

Glycemic Control ◽

Normal Weight ◽

Common Variants ◽

Hnf1a Gene ◽

Japanese Subjects

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Mutations in the HNF1A gene as a cause of MODY3: a clinical case

Almanac of Clinical Medicine ◽

10.18786/2072-0505-2019-47-021 ◽

2019 ◽

Vol 47 (2) ◽

pp. 180-185

Author(s):

T. Yu. Demidova ◽

E. Yu. Gritskevich ◽

O. V. Balutina

Keyword(s):

Diabetes Mellitus ◽

Clinical Case ◽

Clinical Symptoms ◽

Molecular Genetic ◽

Practical Experience ◽

Molecular Genetic Analysis ◽

Β Cells ◽

Pancreatic Β Cells ◽

Diabetes Mellitus Diagnosis ◽

Hnf1a Gene

Genetic dysfunction of the pancreatic β-cells and/ or factors participating in glucose metabolism can form the bases for monogenic types of diabetes mellitus. Diagnosis of MODY type of diabetes is difficult due to its rare identification in the real clinical practice and to the necessity of molecular genetic testing for the confirmation of specific mutations. Errors in the diagnosis of diabetes mellitus may be misleading for the choice of hypoglycemic treatment, which is the key problem in the management of these patients. In the clinical case described, the diagnosis of MODY3 related to the mutations in the HNF1A transcriptional factor was confirmed during pregnancy of the patient, i.e. more than 15 years had passed from manifestation of the disease in childhood, despite typical clinical symptoms and specific familial history. Optimization of the early diagnosis and management of this patient cohort can be facilitated by accumulation of theoretical knowledge and practical experience, as well as improvement of diagnostic capacities, including higher availability of molecular genetic analysis.

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Associations between the common HNF1A gene variant p.I27L (rs1169288) and risk of type 2 diabetes mellitus are influenced by weight

Diabetes & Metabolism ◽

10.1016/j.diabet.2014.04.009 ◽

2015 ◽

Vol 41 (1) ◽

pp. 91-94 ◽

Cited By ~ 9

Author(s):

K. Morita ◽

J. Saruwatari ◽

T. Tanaka ◽

K. Oniki ◽

A. Kajiwara ◽

...

Keyword(s):

Diabetes Mellitus ◽

Type 2 Diabetes ◽

Type 2 Diabetes Mellitus ◽

Gene Variant ◽

Hnf1a Gene ◽

The Common

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Peer Relationship Problems in Children with Tourette's Disorder or Diabetes Mellitus

Journal of Child Psychology and Psychiatry ◽

10.1017/s0021963098002480 ◽

1998 ◽

Vol 39 (5) ◽

pp. 663-668 ◽

Cited By ~ 53

Author(s):

Harry N. Bawden ◽

Aidan Stokes ◽

Carol S. Camfield ◽

Peter R. Camfield ◽

Sonia Salisbury

Keyword(s):

Diabetes Mellitus ◽

Peer Relationship ◽

Tourette’S Disorder ◽

Relationship Problems ◽

Tourette's Disorder

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Intramuscular Nerve and Neuromuscular Junction Alteration In Extraocular Muscles of Diabetic Mice

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100120102 ◽

1985 ◽

Vol 43 ◽

pp. 682-683

Author(s):

Bruce R. Pachter

Keyword(s):

Diabetes Mellitus ◽

Peripheral Nerves ◽

Sudden Onset ◽

Extraocular Muscles ◽

Diabetic Patients ◽

Oculomotor Palsy ◽

Third Nerve Palsy ◽

Patients With Diabetes ◽

Intramuscular Nerve ◽

Oculomotor Nerves

Diabetes mellitus is one of the commonest causes of neuropathy. Diabetic neuropathy is a heterogeneous group of neuropathic disorders to which patients with diabetes mellitus are susceptible; more than one kind of neuropathy can frequently occur in the same individual. Abnormalities are also known to occur in nearly every anatomic subdivision of the eye in diabetic patients. Oculomotor palsy appears to be common in diabetes mellitus for their occurrence in isolation to suggest diabetes. Nerves to the external ocular muscles are most commonly affected, particularly the oculomotor or third cranial nerve. The third nerve palsy of diabetes is characteristic, being of sudden onset, accompanied by orbital and retro-orbital pain, often associated with complete involvement of the external ocular muscles innervated by the nerve. While the human and experimental animal literature is replete with studies on the peripheral nerves in diabetes mellitus, there is but a paucity of reported studies dealing with the oculomotor nerves and their associated extraocular muscles (EOMs).

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