Neonatal diabetes mellitus: Chromosomal analysis in transient and permanent cases

Metz, C.; Cavé, Hélène; Bertrand, Anne Marie; Deffert, Christine; Gueguen-Giroux, Béatrice; Czernichow, P; Polak, Michel

doi:10.1067/mpd.2002.127089

Cited by 95 publications

(92 citation statements)

References 34 publications

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“…Infants with permanent neonatal diabetes mellitus are less likely to have intrauterine growth retardation (over two thirds of the babies with the transient form have intrauterine growth retardation), are older at diagnosis and usually have higher insulin requirements [4]. The genetic anomalies hitherto described in the permanent form include a deletion in the PDX (IPF1) gene [6] and a mutation of the glucokinase gene [7].…”

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confidence: 99%

“…Patients need insulin therapy to maintain euglycaemia. Several groups, including ours, have shown that neonatal diabetes is not associated with high-risk Type 1 diabetes HLA DQ alleles and islet-specific autoantibodies, and transient and permanent neonatal diabetes are different disease entities [4,5].…”

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confidence: 99%

“…In a large cohort of patients, a group has recently shown that there are major differences in birth weight, age at presentation, insulin requirement (with considerable overlap) and genetic background between the two variants [4]. Infants with permanent neonatal diabetes mellitus are less likely to have intrauterine growth retardation (over two thirds of the babies with the transient form have intrauterine growth retardation), are older at diagnosis and usually have higher insulin requirements [4].…”

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confidence: 99%

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Diabetes in the young: a paediatric and epidemiological perspective

Soltész

2003

Diabetologia

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The spectrum of diabetes in the young has widened; it now includes monogenic diseases, for example the various forms of permanent and transient neonatal diabetes and MODY as well as the emerging obesityassociated Type 2 diabetes in late childhood, but the main form is still Type 1 diabetes. Age-related major medical, physiological, social and emotional problems make the clinical management of diabetes in children and adolescents a difficult task for the physician and the family. Overall glycaemic control remains moderate or poor despite a treatment schedule, which interferes with several elements of "normal" childhood.There is an up to tenfold geographical variation in the incidence of childhood Type 1 diabetes within Europe with relatively stable incidence rates in some countries (mainly northern), but dynamic increases in incidence in other countries (mainly central European).A number of nongenetic (environmental) factors have been associated with the risk of Type 1 diabetes.

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Diabetes in the young: a paediatric and epidemiological perspective

Soltész

2003

Diabetologia

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“…The rarity of TNDM (1:200,000 to 1:400,000 live births) poses challenges for data collection about clinical features, outcome and management. Until now the clinical features of 6q24 TNDM have been defined in small case studies, some including patients without a molecularly confirmed diagnosis [6,7]; therefore trends in birthweights, presentation, remission and clinical features, particularly comparing different 6q24 TNDM aetiologies, has been limited by low statistical power. Here we describe the clinical presentation of the largest worldwide cohort of confirmed 6q24 TNDM cases, the majority of whom have not been previously reported, which enables us for the first time to quantify genotype-phenotype correlations.…”

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confidence: 99%

Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype–phenotype correlation in an international cohort of patients

et al. 2013

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Aims/hypothesis 6q24 transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes presenting in the neonatal period that remits during infancy but, in a proportion of cases, recurs in later life. We aim to describe the clinical presentation of 6q24 TNDM in the largest worldwide cohort of patients with defined molecular aetiology, in particular seeking differences in presentation or clinical history between aetiological groups. Methods One-hundred and sixty-three patients with positively diagnosed 6q24 TNDM were ascertained from Europe, the Americas, Asia and Australia. Clinical data from referrals were recorded and stratified by the molecular aetiology of patients. Results 6q24 TNDM patients presented at a modal age of one day, with growth retardation and hyperglycaemia, irrespective of molecular aetiology. There was a positive correlation between age of presentation and gestational age, and a negative correlation between adjusted birthweight SD and age of remission. Congenital anomalies were significantly more frequent in patients with paternal uniparental disomy of chromosome 6 or hypomethylation of multiple imprinted loci defects than in those with 6q24 duplication or isolated hypomethylation defects. Patients with hypomethylation had an excess representation of assisted conception at 15%. Conclusions/interpretation This, the largest case series of 6q24 TNDM published, refines and extends the clinical phenotype of the disorder and confirms its clinical divergence from other monogenic TNDM in addition to identifying previously unreported clinical differences between 6q24 subgroups.

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“…[3][4][5][6][7] Copy number imbalance can be detected by MS-MLPA, short tandem repeat marker typing and molecular karyotyping (SNP array, aCGH), and in the case of rare large duplications, FISH or cytogenetic analysis. Uniparental disomy analysis can be performed by short tandem repeat marker typing or by molecular karyotyping using SNP array (UPD testing should preferentially include the parents for full informativity).…”

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confidence: 99%