Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes
Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes
Transient neonatal diabetes (TND) is a rare type of diabetes that presents soon after birth, resolves by 18 months, and predisposes to diabetes later in life. A total of 30 patients were ascertained and investigated for aberrations of chromosome 6. A genotype/phenotype study was also performed. Genotypically, these patients can be classified into 4 etiologic groups. Group 1 had paternal uniparental isodisomy of chromosome 6 (11 cases, including 1 set of identical twins). Group 2 had a duplication involving chromosome band 6q24, which was paternal in origin where tested (4 sporadic cases and 7 familial cases from 2 families). Group 3 consisted of 1 patient with a loss of methylation at a CpG island within the TND critical region (1 sporadic case). Group 4 had no identifiable rearrangement of chromosome 6 (7 sporadic cases). Most patients were growth retarded at birth, presented at a median age of 3 days, and recovered at a median age of 12 weeks. In group 2, 2 relatives of the TND patients who presented with type 2 diabetes and no early history of TND had inherited an identical duplication. An abnormality of chromosome 6 was identified in approximately 70% of sporadic TND cases and in all familial cases. No significant clinical differences were found between the 4 etiological groups. The study has broadened the clinical spectrum of TND to include type 2 diabetes presenting in later life with no neonatal presentation. The findings are consistent with an imprinted gene for diabetes mapping to 6q24, which we predict will have an important function in normal pancreatic development.
Aneuploidy, Biomarkers, Birth Weight, Chromosome Aberrations, Chromosome Mapping, Chromosomes, Human, Pair 6, Diabetes Mellitus, Type 1, Dinucleoside Phosphates, Female, Genetic Markers, Genetic Predisposition to Disease, Genomic Imprinting, Humans, Infant, Infant, Newborn, Insulin, Male, Remission, Spontaneous, Journal Article, Research Support, Non-U.S. Gov't
1359-66
Temple, I K
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Gardener, Rebecca J
4238020d-2431-49c1-9919-577a658075c1
Mackay, D J
588a653e-9785-4a00-be71-4e547850ee4a
Robinson, D O
dcef4b3b-ac9b-4c1b-b8b2-1bee4b81a8cc
Shield, J P
87978770-3a64-4fc2-aedc-535657d2be5f
August 2000
Temple, I K
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Gardener, Rebecca J
4238020d-2431-49c1-9919-577a658075c1
Mackay, D J
588a653e-9785-4a00-be71-4e547850ee4a
Robinson, D O
dcef4b3b-ac9b-4c1b-b8b2-1bee4b81a8cc
Shield, J P
87978770-3a64-4fc2-aedc-535657d2be5f
Temple, I K, Gardener, Rebecca J, Mackay, D J, Robinson, D O and Shield, J P
(2000)
Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes.
Diabetes, 49 (8), .
(doi:10.2337/diabetes.49.8.1359).
Abstract
Transient neonatal diabetes (TND) is a rare type of diabetes that presents soon after birth, resolves by 18 months, and predisposes to diabetes later in life. A total of 30 patients were ascertained and investigated for aberrations of chromosome 6. A genotype/phenotype study was also performed. Genotypically, these patients can be classified into 4 etiologic groups. Group 1 had paternal uniparental isodisomy of chromosome 6 (11 cases, including 1 set of identical twins). Group 2 had a duplication involving chromosome band 6q24, which was paternal in origin where tested (4 sporadic cases and 7 familial cases from 2 families). Group 3 consisted of 1 patient with a loss of methylation at a CpG island within the TND critical region (1 sporadic case). Group 4 had no identifiable rearrangement of chromosome 6 (7 sporadic cases). Most patients were growth retarded at birth, presented at a median age of 3 days, and recovered at a median age of 12 weeks. In group 2, 2 relatives of the TND patients who presented with type 2 diabetes and no early history of TND had inherited an identical duplication. An abnormality of chromosome 6 was identified in approximately 70% of sporadic TND cases and in all familial cases. No significant clinical differences were found between the 4 etiological groups. The study has broadened the clinical spectrum of TND to include type 2 diabetes presenting in later life with no neonatal presentation. The findings are consistent with an imprinted gene for diabetes mapping to 6q24, which we predict will have an important function in normal pancreatic development.
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Published date: August 2000
Keywords:
Aneuploidy, Biomarkers, Birth Weight, Chromosome Aberrations, Chromosome Mapping, Chromosomes, Human, Pair 6, Diabetes Mellitus, Type 1, Dinucleoside Phosphates, Female, Genetic Markers, Genetic Predisposition to Disease, Genomic Imprinting, Humans, Infant, Infant, Newborn, Insulin, Male, Remission, Spontaneous, Journal Article, Research Support, Non-U.S. Gov't
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Local EPrints ID: 418321
URI: http://eprints.soton.ac.uk/id/eprint/418321
ISSN: 0012-1797
PURE UUID: 16f32000-46cd-4c8f-b88a-7fa7d5554734
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Date deposited: 28 Feb 2018 17:30
Last modified: 16 Mar 2024 03:05
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Author:
Rebecca J Gardener
Author:
D O Robinson
Author:
J P Shield
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