NEUROD1 Mutation in an Italian Patient With Maturity Onset Diabetes of the Young 6: a Case Report

Abstract Background and Aims: maturity onset diabetes of the young (MODY) is a monogenic, autosomal, dominant disease characterized by a single genetic mutation that results in beta-cells disfunction with consequent hyperglycemia. It represents a rare form of diabetes (1-2% of all the cases). Sulphonylureas (SU) represent the first line treatment for this form of diabetic disease. NEUROD1 is a transcription factor expressed by pancreatic and nervous tissues that is necessary for a proper development of beta cells. A mutation of NEUROD1 gene has been found to cause beta-cells dysfunction, inadequate insulin secretion, and hyperglycemia (MODY 6). A recent case report has documented for the first time a new missense mutation (p.Met114Leu c.340A> C), of the NEUROD1 gene pathogenetic for diabetes mellitus.Methods and Results: We report the case of a 50 years-old man who presented the same mutation, and who was able to suspend rapid insulin after the diagnosis and treatment with SU. Interestingly, our patient had an early onset dilated cardiomyopathy but no other data about cardiac diseases in patients with MODY 6 are available.Conclusions: Diagnostic criteria for MODY can overlap with other kinds of diabetes and most cases are still misdiagnosed as diabetes type 1 or 2. The disease should be suspected in patients with a strong family history of diabetes, normal BMI, early onset and no autoimmunity.

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NEUROD1 mutation in an Italian patient with maturity onset diabetes of the young 6: a case report

BMC Endocrine Disorders ◽

10.1186/s12902-021-00864-w ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Lucia Brodosi ◽

Bianca Baracco ◽

Vilma Mantovani ◽

Loris Pironi

Keyword(s):

Diabetes Mellitus ◽

Beta Cells ◽

Early Onset ◽

Genetic Diagnosis ◽

Glucose Monitoring ◽

Maturity Onset Diabetes ◽

Family History Of Diabetes ◽

Onset Diabetes ◽

Dominant Disease ◽

Basal Bolus

Abstract Background Maturity Onset Diabetes of the Young (MODY) is a monogenic, autosomal, dominant disease that results in beta-cells dysfunction with consequent hyperglycaemia. It represents a rare form of diabetes (1–2% of all the cases). Sulphonylureas (SUs) represent the first-line treatment for this form of diabetes mellitus. NEUROD1 is expressed by the nervous and the pancreatic tissues, and it is necessary for the proper development of beta cells. A neurogenic differentiation factor 1 (NEUROD1) gene mutation causes beta-cells dysfunction, inadequate insulin secretion, and hyperglycaemia (MODY 6). Case presentation We have documented a new missense mutation (p.Met114Leu c.340A > C) of the NEUROD1 gene, pathogenetic for diabetes mellitus, in a 48 years-old man affected by diabetes since the age of 25 and treated with insulin basal-bolus therapy. Unfortunately, an attempt to replace rapid insulin with dapagliflozin has failed. However, after the genetic diagnosis of MODY6 and treatment with SUs, he was otherwise able to suspend rapid insulin and close glucose monitoring. Interestingly, our patient had an early onset dilated cardiomyopathy, though no data about cardiac diseases in patients with MODY 6 are available. Conclusions Diagnostic criteria for MODY can overlap with other kinds of diabetes and most cases of genetic diabetes are still misdiagnosed as diabetes type 1 or 2. We encourage to suspect this disease in patients with a strong family history of diabetes, normal BMI, early-onset, and no autoimmunity. The appropriate therapy simplifies disease management and improves the quality of the patient’s life.

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Abstract #314: Maturity Onset Diabetes of the Young: A Case Report

Endocrine Practice ◽

10.1016/s1530-891x(20)45022-0 ◽

2016 ◽

Vol 22 ◽

pp. 94

Author(s):

Deepa Philip ◽

Laura Chalmers

Keyword(s):

Case Report ◽

Maturity Onset Diabetes ◽

Onset Diabetes

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Autosomal Dominant Tubulointerstitial Kidney Disease HNF1B With Maturity Onset Diabetes of the Young: a Case Report With Kidney Biopsy

Kidney Medicine ◽

10.1016/j.xkme.2020.10.007 ◽

2020 ◽

Author(s):

Yuki Oba ◽

Naoki Sawa ◽

Hiroki Mizuno ◽

Junichi Hoshino ◽

Keiichi Kinowaki ◽

...

Keyword(s):

Case Report ◽

Kidney Disease ◽

Autosomal Dominant ◽

Kidney Biopsy ◽

Maturity Onset Diabetes ◽

Onset Diabetes

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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

Hormone Research in Paediatrics ◽

10.1159/000494431 ◽

2018 ◽

Vol 90 (4) ◽

pp. 257-265 ◽

Cited By ~ 1

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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