Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation
Aim. The objective of this study was to describe the clinical characteristics of two siblings and their father carrying a C95Y mutation in the insulin (INS) gene. Methods/Results. A Danish patient, his sister, and his father were identified to carry the C95Y mutation in the preproinsulin molecule ca...
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| Format: | Article |
| Language: | English |
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Wiley
2011-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2011/258978 |
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| author | Siri Fredheim Jannet Svensson Sven Pørksen Lars Hansen Torben Hansen Oluf Borbye Pedersen Henrik Bindesbøl Mortensen Fabrizio Barbetti Lotte Brøndum Nielsen |
| author_facet | Siri Fredheim Jannet Svensson Sven Pørksen Lars Hansen Torben Hansen Oluf Borbye Pedersen Henrik Bindesbøl Mortensen Fabrizio Barbetti Lotte Brøndum Nielsen |
| author_sort | Siri Fredheim |
| collection | DOAJ |
| description | Aim. The objective of this study was to describe the clinical characteristics of two siblings and their father carrying a C95Y mutation in the insulin (INS) gene. Methods/Results. A Danish patient, his sister, and his father were identified to carry the C95Y mutation in the preproinsulin molecule causing permanent neonatal diabetes. All three were diagnosed before 29 weeks of age, were born at term with near-normal birth weight, and were negative for GAD, ICA, IA-2, and IAA autoantibodies. The daily insulin requirement the first six months after diagnosis was <0.5 U kg−1 day−1 for both children. The father, insulin treated for over 40 years, has bilateral preproliferative retinopathy. Conclusions. These three cases further confirm the essential features of diabetes caused by INS mutations with proteotoxic effect. We conclude that patients with similar features must be investigated for mutations of INS gene. |
| format | Article |
| id | doaj-art-65c0e6948e514161b31a8aae3b9e9480 |
| institution | OA Journals |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2011-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-65c0e6948e514161b31a8aae3b9e94802025-08-20T02:23:48ZengWileyCase Reports in Genetics2090-65442090-65522011-01-01201110.1155/2011/258978258978Intrafamilial Variability of Early-Onset Diabetes due to an INS MutationSiri Fredheim0Jannet Svensson1Sven Pørksen2Lars Hansen3Torben Hansen4Oluf Borbye Pedersen5Henrik Bindesbøl Mortensen6Fabrizio Barbetti7Lotte Brøndum Nielsen8Department of Paediatrics, Herlev University Hospital, Ndr Ringvej 75, 2730 Herlev, DenmarkDepartment of Paediatrics, Herlev University Hospital, Ndr Ringvej 75, 2730 Herlev, DenmarkDepartment of Paediatrics, Herlev University Hospital, Ndr Ringvej 75, 2730 Herlev, DenmarkDepartment of Paediatrics, Herlev University Hospital, Ndr Ringvej 75, 2730 Herlev, DenmarkThe Faculty of Health Sciences, University of Copenhagen, DenmarkThe Faculty of Health Sciences, University of Copenhagen, DenmarkDepartment of Paediatrics, Herlev University Hospital, Ndr Ringvej 75, 2730 Herlev, DenmarkLaboratory of Monogenic Diabetes, Bambino Gesù Children's Hospital, Tor Vergata University Hospital, Viale Oxford, 81 00133 Rome, ItalyDepartment of Paediatrics, Herlev University Hospital, Ndr Ringvej 75, 2730 Herlev, DenmarkAim. The objective of this study was to describe the clinical characteristics of two siblings and their father carrying a C95Y mutation in the insulin (INS) gene. Methods/Results. A Danish patient, his sister, and his father were identified to carry the C95Y mutation in the preproinsulin molecule causing permanent neonatal diabetes. All three were diagnosed before 29 weeks of age, were born at term with near-normal birth weight, and were negative for GAD, ICA, IA-2, and IAA autoantibodies. The daily insulin requirement the first six months after diagnosis was <0.5 U kg−1 day−1 for both children. The father, insulin treated for over 40 years, has bilateral preproliferative retinopathy. Conclusions. These three cases further confirm the essential features of diabetes caused by INS mutations with proteotoxic effect. We conclude that patients with similar features must be investigated for mutations of INS gene.http://dx.doi.org/10.1155/2011/258978 |
| spellingShingle | Siri Fredheim Jannet Svensson Sven Pørksen Lars Hansen Torben Hansen Oluf Borbye Pedersen Henrik Bindesbøl Mortensen Fabrizio Barbetti Lotte Brøndum Nielsen Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation Case Reports in Genetics |
| title | Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation |
| title_full | Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation |
| title_fullStr | Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation |
| title_full_unstemmed | Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation |
| title_short | Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation |
| title_sort | intrafamilial variability of early onset diabetes due to an ins mutation |
| url | http://dx.doi.org/10.1155/2011/258978 |
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