Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review
Abstract Background Diabetes mellitus with autosomal dominant inheritance, such as maturity-onset diabetes of the young (MODY), is a genetic form of diabetes mellitus. MODY is a type of monogenic diabetes mellitus in which multiple genetic variants may cause an alteration to the functioning of beta...
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| Format: | Article |
| Language: | English |
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BMC
2020-08-01
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| Series: | Clinical Diabetes and Endocrinology |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s40842-020-00103-6 |
| _version_ | 1828764094033821696 |
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| author | Juan Camilo Mateus Carolina Rivera Miguel O’Meara Alex Valenzuela Fernando Lizcano |
| author_facet | Juan Camilo Mateus Carolina Rivera Miguel O’Meara Alex Valenzuela Fernando Lizcano |
| author_sort | Juan Camilo Mateus |
| collection | DOAJ |
| description | Abstract Background Diabetes mellitus with autosomal dominant inheritance, such as maturity-onset diabetes of the young (MODY), is a genetic form of diabetes mellitus. MODY is a type of monogenic diabetes mellitus in which multiple genetic variants may cause an alteration to the functioning of beta cells. The three most known forms of MODY are caused by modifications to the hnf4a, gck, and hnf1a genes. However, other MODY variants can cause multiple alterations in the embryonic development of the endoderm. This is the case in patients presenting with MODY5, who have a mutation of the hepatic nuclear factor 1B (hnf1b) gene. Case presentation We present the clinical case of a 15 year-old patient with a family history of diabetes mellitus and a classical MODY type 5 (MODY5) phenotype involving the pancreas and kidney, with a novel, unreported mutation in the hnf1b gene. Conclusions MODY5 is characterised by a mutation in the hnf1b gene, which plays an important role in the development and function of multiple organs. It should be suspected in patients with unusual diabetes and multisystem involvement unrelated to diabetes. Graphical abstract |
| first_indexed | 2024-12-11T02:14:31Z |
| format | Article |
| id | doaj.art-65fe1ce185ca4a139532ae5bbf472523 |
| institution | Directory Open Access Journal |
| issn | 2055-8260 |
| language | English |
| last_indexed | 2024-12-11T02:14:31Z |
| publishDate | 2020-08-01 |
| publisher | BMC |
| record_format | Article |
| series | Clinical Diabetes and Endocrinology |
| spelling | doaj.art-65fe1ce185ca4a139532ae5bbf4725232022-12-22T01:24:13ZengBMCClinical Diabetes and Endocrinology2055-82602020-08-01611810.1186/s40842-020-00103-6Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature reviewJuan Camilo Mateus0Carolina Rivera1Miguel O’Meara2Alex Valenzuela3Fernando Lizcano4Endocrinology Fellowship, School of Medicine and Health Sciences, Rosary University – Fundacion Cardio-Infantil ICDepartment of Genetics, Fundacion Cardio-Infantil ICDepartment of Endocrinology, Diabetes and Nutrition, Fundacion Cardio-Infantil ICDepartment of Endocrinology, Diabetes and Nutrition, Fundacion Cardio-Infantil ICDepartment of Endocrinology, Diabetes and Nutrition, Fundacion Cardio-Infantil ICAbstract Background Diabetes mellitus with autosomal dominant inheritance, such as maturity-onset diabetes of the young (MODY), is a genetic form of diabetes mellitus. MODY is a type of monogenic diabetes mellitus in which multiple genetic variants may cause an alteration to the functioning of beta cells. The three most known forms of MODY are caused by modifications to the hnf4a, gck, and hnf1a genes. However, other MODY variants can cause multiple alterations in the embryonic development of the endoderm. This is the case in patients presenting with MODY5, who have a mutation of the hepatic nuclear factor 1B (hnf1b) gene. Case presentation We present the clinical case of a 15 year-old patient with a family history of diabetes mellitus and a classical MODY type 5 (MODY5) phenotype involving the pancreas and kidney, with a novel, unreported mutation in the hnf1b gene. Conclusions MODY5 is characterised by a mutation in the hnf1b gene, which plays an important role in the development and function of multiple organs. It should be suspected in patients with unusual diabetes and multisystem involvement unrelated to diabetes. Graphical abstracthttp://link.springer.com/article/10.1186/s40842-020-00103-6MODY5HNF1BRenal hypoplasiaPancreatic atrophy |
| spellingShingle | Juan Camilo Mateus Carolina Rivera Miguel O’Meara Alex Valenzuela Fernando Lizcano Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review Clinical Diabetes and Endocrinology MODY5 HNF1B Renal hypoplasia Pancreatic atrophy |
| title | Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review |
| title_full | Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review |
| title_fullStr | Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review |
| title_full_unstemmed | Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review |
| title_short | Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review |
| title_sort | maturity onset diabetes of the young type 5 a multisystemic disease a case report of a novel mutation in the hnf1b gene and literature review |
| topic | MODY5 HNF1B Renal hypoplasia Pancreatic atrophy |
| url | http://link.springer.com/article/10.1186/s40842-020-00103-6 |
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